Department of Neurology

Pediatric Neurology Faculty Publications 2014-2020

2020

Risk of Intracranial Hemorrhage Following Intravenous tPA (Tissue-Type Plasminogen Activator) for Acute Stroke Is Low in Children. Amlie-Lefond C, Shaw DWW, Cooper A, Wainwright MS, Kirton A, Felling RJ, Abraham MG, Mackay MT, Dowling MM, Torres M, Rivkin MJ, Grabowski EF, Lee S, Kurz JE, McMillan HJ, Barry D, Lee-Eng J, Ichord RN. Stroke. 2020 Feb;51(2):542-548.

Strategic Considerations for Applying the Flipped Classroom to Neurology Education. Sandrone S, Berthaud JV, Carlson C, Cios J, Dixit N, Farheen A, Kraker J, Owens JWM, Patino G, Sarva H, Weber D, Schneider LD. Ann Neurol. 2020 Jan;87(1):4-9. doi: 10.1002/ana.25609. Epub 2019 Nov 21.

Examining the Utility of Resective Epilepsy Surgery in Children With Electrical Status Epilepticus in Sleep: Long Term Clinical and Electrophysiological Outcomes. Marashly A, Koop J, Loman M, Lee YW, Lew SM.  Front Neurol. 2020 Jan 15;10:1397.

2019

Amlie-Lefond C, Wainwright MS. Organizing for Acute Arterial Ischemic Stroke in Children. Stroke. 2019 Dec;50(12):3662-3668.

Gust J, Annesley CE, Gardner RA, Bozarth X.EEG Correlates of Delirium in Children and Young Adults With CD19-Directed CAR T Cell Treatment-Related Neurotoxicity. J Clin Neurophysiol. 2019 Dec 13

Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK  Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.. Mol Genet Metab. 2019 Dec 30.

RA, Ceppi F, Rivers J, Annesley C, Summers C, Taraseviciute A, Gust J, Leger KJ, Tarlock K, Cooper TM, Finney OC, Brakke H, Li DH, Park JR, Jensen MC. Preemptive mitigation of CD19 CAR T-cell cytokine release syndrome without attenuation of antileukemic efficacy.Gardner  Blood. 2019 Dec 12;134(24):2149-2158. doi: 10.1182/blood.2019001463.

Ravanpay AC, Gust J, Johnson AJ, Rolczynski LS, Cecchini M, Chang CA, Hoglund VJ, Mukherjee R, Vitanza NA, Orentas RJ, Jensen MC. EGFR806-CAR T cells selectively target a tumor-restricted EGFR epitope in glioblastoma Oncotarget. 2019 Dec 17;10(66):7080-7095.

Parikh S, Galioto R, Lapin B, Haas R, Hirano M, Koenig MK, Saneto RP, Zolkipli-Cunningham Z, Goldstein A, Karaa A.  Fatigue in primary genetic mitochondrial disease: No rest for the weary. Neuromuscul Disord. 2019 Nov;29(11):895-902.

Lockrow JP, Wright JN, Saneto RP, Amlie-Lefond C. Epileptic Spasms Predict Poor Epilepsy Outcomes After Perinatal Stroke.J Child Neurol. 2019 Nov;34(13):830-836.

Kochanek PM, Grenvik AN, Tasker RC, Carney N, Totten AM, Adelson PD, Selden NR, Davis-O’Reilly C, Hart EL, Bell MJ, Bratton SL, Grant GA, Kissoon N, Reuter-Rice KE, Vavilala MS, Wainwright MS. The authors reply.Pediatr Crit Care Med. 2019 Nov;20(11):1105-1107. 2019 Jul 24.

Rummey C, Corben LA, Delatycki MB, Subramony SH, Bushara K, Gomez CM, Hoyle JC, Yoon G, Ravina B, Mathews KD, Wilmot G, Zesiewicz T, Perlman S, Farmer JM, Lynch DR. Psychometric properties of the Friedreich Ataxia Rating Scale. Neurol Genet. 2019 Oct 29;5(6):371

Gust J, Ishak GE. Chimeric Antigen Receptor T-Cell Neurotoxicity Neuroimaging: More Than Meets the Eye.  AJNR Am J Neuroradiol. 2019 Oct;40(10):E50-E51.

Oegema R, Barkovich AJ, Mancini GMS, Guerrini R, Dobyns WB. Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals. Neurology. 2019 Oct 1;93(14):e1360-e1373

Law EF, Powers SW, Blume H, Palermo TM. Screening Family and Psychosocial Risk in Pediatric Migraine and Tension-Type Headache: Validation of the Psychosocial Assessment Tool (PAT). Headache. 2019 Oct;59(9):1516-1529.

Chan JHM, Owens JW, Wrede JE. Case of an In-Laboratory Vagal Nerve Stimulator Titration for Vagal Nerve Stimulator-Induced Pediatric Obstructive Sleep Apnea. J Clin Sleep Med. 2019 Oct 15;15(10):1539-1542.

DelRosso LM, Lockhart C, Wrede JE, Chen ML, Samson M, Reed J, Martin-Washo S, Arp M, Ferri R. Comorbidities in children with elevated periodic limb movement index during sleep. Sleep. 2019 Sep 26.

DelRosso LM, Yi T, Chan JHM, Wrede JE, Lockhart CT, Ferri R. Determinants of ferritin response to oral iron supplementation in children with sleep movement disorders.  Sleep. 2019 Sep 29. pii: zsz234.

Dines JN, Liu YJ, Neufeld-Kaiser W, Sawyer T, Ishak GE, Tully HM, Racobaldo M, Sanchez-Valle A, Disteche CM, Juusola J, Torti E, McWalter K, Doherty D, Dipple KM. Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. Am J Med Genet A. 2019 Sep;179(9):1783-1790

Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Costello syndrome: Clinical phenotype, genotype, and management guidelines  Am J Med Genet A. 2019 Sep;179(9):1725-1744.

Berg AT, Wusthoff C, Shellhaas RA, Loddenkemper T, Grinspan ZM, Saneto RP, Knupp KG, Patel A, Sullivan JE, Kossoff EH, Chu CJ, Massey S, Valencia I, Keator C, Wirrell EC, Coryell J, Millichap JJ, Gaillard WD. Immediate outcomes in early life epilepsy: A contemporary account.Epilepsy Behav. 2019 Aug;97:44-50.

Topjian AA, de Caen A, Wainwright MS, Abella BS, Abend NS, Atkins DL, Bembea MM, Fink EL, Guerguerian AM, Haskell SE, Kilgannon JH, Lasa JJ, Hazinski MF.  Pediatric Post-Cardiac Arrest Care: A Scientific Statement From the American Heart Association. 2019 Aug 6;140(6):e194-e233.

Sánchez Fernández I, Gaínza-Lein M, Abend NS, Amengual-Gual M, Anderson A, Arya R, Brenton JN, Carpenter JL, Chapman KE, Clark J, Farias-Moeller R, Davis Gaillard W, Glauser TA, Goldstein J, Goodkin HP, Guerriero RM, Hecox K, Jackson M, Kapur K, Kelley SA, Kossoff EHW, Lai YC, McDonough TL, Mikati MA, Morgan LANovotny EJ, Ostendorf AP, Payne ET, Peariso K, Piantino J, Riviello JJ Jr, Sannagowdara K, Stafstrom CE, Tasker RC, Tchapyjnikov D, Topjian AA, Vasquez A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; The onset of pediatric refractory status epilepticus is not distributed uniformly during the day.Pediatric Status Epilepticus Research Group. Seizure. 2019 Aug;70:90-96.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay,
Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Aug 1;105(2):413-424.

Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sørensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK.   De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. Am J Hum Genet. 2019 Jul 23. pii: S0002-9297(19)30268-X.

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, HéronD, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.  SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 Jul;40(7):908-925.

Lockrow JP, Wright JN, Saneto RPAmlie-Lefond C. Epileptic Spasms Predict Poor Epilepsy Outcomes After Perinatal Stroke J Child Neurol. 2019 Jul 24:

Wainwright MS. Clinician, Heal Thyself”: Decisional Conflict, Value Judgments, and Their Role in Practice Variation in Traumatic Brain Injury Pediatr Crit Care Med. 2019 Jul;20(7):679-680.

Sandrone S, Berthaud JV, Carlson C, Cios J, Dixit N, Farheen A, Kraker J, Owens JWM, Patino G, Sarva H, Weber D, Schneider LD.  Education Research: Flipped classroom in neurology: Principles, practices, and perspectivesNeurology. 2019 Jul 2;93(1):e106-e111.

Kochanek PM, Tasker RC, Carney N, Totten AM, Adelson PD, Selden NR, Davis-O’Reilly C, Hart EL, Bell MJ, Bratton SL, Grant GA, Kissoon N, Reuter-Rice KE, Vavilala MS, Wainwright MS. Guidelines for the Management of Pediatric Severe Traumatic Brain Injury, Third Edition: Update of the Brain Trauma Foundation Guidelines, Executive Summary Neurosurgery. 2019 Jun 1;84(6):1169-1178.

Ibañez LV, Stoep AV, Myers K, Zhou C, Dorsey S, Steinman KJ, Stone WL. BMC Promoting early autism detection and intervention in underserved communities: study protocol for a pragmatic trial using a stepped-wedge design.Psychiatry. 2019 Jun 7;19(1):169.

Barry M, Hallam DK, Bernard TJ, Amlie-Lefond C What is the Role of Mechanical Thrombectomy in Childhood Stroke?
Pediatr Neurol. 2019 Jun;95:19-25.

Chelse AB, Kurz JE, Gorman KM, Epstein LG, Balmert LC, Ciolino JD, Wainwright MS. Remote poststroke headache in children: Characteristics and association with stroke recurrence.   Neurol Clin Pract. 2019 Jun;9(3):194-200.

McKeever JD, Schultheis MT, Sim T, Goykhman J, Patrick K, Ehde DM, Woods SP. Selective reminding of prospective memory in Multiple Sclerosis Neuropsychol Rehabil. 2019 Jun;29(5):675-690.

Karasozen Y, Osbun JW, Parada CA, Busald T, Tatman P, Gonzalez-Cuyar LF, Hale CJ, Alcantara D, O’Driscoll M, Dobyns WB, Murray M, Kim LJ, Byers P, Dorschner MO, Ferreira M Jr. Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms Am J Hum Genet. 2019 May 2;104(5):968-976.

Marsillio LE, Manghi T, Carroll MS, Balmert LC, Wainwright MS Heart rate variability as a marker of recovery from critical illness in children.PLoS One. 2019 May 17;14(5)

Amengual-Gual M, Sánchez Fernández I, Wainwright MS. Novel drugs and early polypharmacotherapy in status epilepticus Seizure. 2019 May;68:79-88. doi: 10.1016/j.seizure.2018.08.004. Epub 2018 Aug 7. Review.

Kochanek PM, Tasker RC, Carney N, Totten AM, Adelson PD, Selden NR, Davis-O’Reilly C, Hart EL, Bell MJ, Bratton SL, Grant GA, Kissoon N, Reuter-Rice KE, Vavilala MS, Wainwright MS. Guidelines for the Management of Pediatric Severe Traumatic Brain Injury, Third Edition: Update of the Brain Trauma Foundation Guidelines. Pediatr Crit Care Med. 2019 Mar;20(3S Suppl 1):S1-S82.  Erratum in: Pediatr Crit Care Med. 2019 Apr;20(4):404.

Messacar K, Sillau S, Hopkins SE, Otten C, Wilson-Murphy M, Wong B, Santoro JD, Treister A, Bains HK, Torres A, Zabrocki L, Glanternik JR, Hurst AL, Martin JA, Schreiner T, Makhani N, DeBiasi RL, Kruer MC, Tremoulet AH, Van Haren K, Desai J, Benson LA, Gorman MP, Abzug MJ, Tyler KL, Dominguez SR. Safety, tolerability, and efficacy of fluoxetine as an antiviral for acute flaccid myelitis. Neurology. 2019 Apr 30;92(18):e2118-e2126.

Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Brain. 2019 Apr 1;142(4):867-884

Kahn-Kirby AH, Amagata A, Maeder CI, Mei JJ, Sideris S, Kosaka Y, Hinman A, Malone SA, Bruegger JJ, Wang L, Kim V, Shrader WD, Hoff KG, Latham JC, Ashley EA, Wheeler MT, Bertini E, Carrozzo R, Martinelli D, Dionisi-Vici C, Chapman KA, Enns GM, Gahl W, Wolfe L, Saneto RP, Johnson SC, Trimmer JK, Klein MB, Holst CR. Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy PLoS One. 2019 Mar 28;14(3):

Wainwright MS.  Getting Excited About Paroxysms: Why Treating Sympathetic Hyperarousal After Traumatic Brain Injury May Be More Important Than We Appreciated Pediatr Crit Care Med. 2019 Mar;20(3):295-296.

Kochanek PM, Tasker RC, Carney N, Totten AM, Adelson PD, Selden NR, Davis-O’Reilly C, Hart EL, Bell MJ, Bratton SL, Grant GA, Kissoon N, Reuter-Rice KE, Vavilala MS, Wainwright MS. Guidelines for the Management of Pediatric Severe Traumatic Brain Injury, Third Edition: Update of the Brain Trauma Foundation Guidelines, Executive Summary.Pediatr Crit Care Med. 2019 Mar;20(3):280-289

Kochanek PM, Tasker RC, Bell MJ, Adelson PD, Carney N, Vavilala MS, Selden NR, Bratton SL, Grant GA, Kissoon N, Reuter-Rice KE, Wainwright MS. Management of Pediatric Severe Traumatic Brain Injury: 2019 Consensus and Guidelines-Based Algorithm for First and Second Tier Therapies.  Pediatr Crit Care Med. 2019 Mar;20(3):269-279.

Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy J Inherit Metab Dis. 2019 Mar;42(2):353-361

Dlamini N, Muthusami P, Amlie-Lefond C. Childhood Moyamoya: Looking Back to the Future.
Pediatr Neurol. 2019 Feb;91:11-19.

Wenger TL, Hopper RA, Rosen A, Tully HM, Cunningham ML, Lee A. A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality. Genet Med. 2019 Feb;21(2):471-476.

Piao CS, Holloway AL, Hong-Routson S, Wainwright MS. Depression following traumatic brain injury in mice is associated with down-regulation of hippocampal astrocyte glutamate transporters by thrombin J Cereb Blood Flow Metab. 2019 Jan;39(1):58-73.

Parsons EC, Carter JC, Wrede JE, Donovan LM, Palen BN. Practical implementation of noninvasive ventilation in Amyotrophic Lateral Sclerosis: lessons learned from a clinical case series Can J Respir Ther. 2019 Jan 9;55:13-15.

Lo MD, Gospe SM Jr. Telemedicine and Child Neurology. J Child Neurol. 2019 Jan;34(1):22-26

2018

Vora SB, Amlie-Lefond C, Perez FA, Melvin AJ. Varicella-Associated Stroke. J Pediatr. 2018 Aug;199:281-281.e1. doi: 10.1016/j.jpeds.2018.03.004.

Brock S, Stouffs K, Scalais E, D’Hooghe M, Keymolen K, Guerrini R, Dobyns WB, Di Donato N, Jansen AC. Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. Eur J Hum Genet. 2018 Aug;26(8):1132-1142. doi: 10.1038/s41431-018-0146-y

Riley JS, Quarato G, Cloix C, Lopez J, O’Prey J, Pearson M, Chapman J, Sesaki H, Carlin LM, Passos JF, Wheeler AP, Oberst A, Ryan KM, Tait SW. Mitochondrial inner membrane permeabilisation enables mtDNA release during apoptosis. EMBO J.2018 Jul 26. pii: e99238. doi: 10.15252/embj.201899238.

Casimo K, Grassia F, Poliachik SL, Novotny E, Poliakov A, Ojemann JG. Preservation of electrophysiological functional connectivity after partial corpus callosotomy: case report. J Neurosurg Pediatr. 2018 Aug;22(2):214-219. doi:10.3171/2018.2.PEDS17549.

Piacitelli AM, Jensen DM, Brandling-Bennett H, Gray MM, Batra M, Gust J, Thaker A, Paschal C, Tsuchiya K, Pritchard CC, Perkins J, Mirzaa GM, Bennett JT. Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients. Am J Med Genet A. 2018 Jul 31. doi: 10.1002/ajmg.a.40487.

Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy. J Inherit Metab Dis. 2018 Jul 24. doi: 10.1007/s10545-018-0219-7.

Gospe SM Jr. Developmental outcome in pyridoxine-dependent epilepsy: Better late (onset) than early. Eur J Paediatr Neurol. 2018 Jul;22(4):575-576. doi: 10.1016/j.ejpn.2018.05.004.

Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL,Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 Jul 16. doi: 10.1038/s41588-018-0166-0.

Oesch G, Maga AM, Friedman SD, Poliachik SL, Budech CB, Wright JN, Bok LA, Gospe SM Jr. Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy. Neurology. 2018 Jul 3;91(1):e78-e86. doi: 10.1212/WNL.0000000000005748.

Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O’Driscoll M, Hannequin D, Campion D; French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G. Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur J Hum Genet. 2018 Jun 28. doi: 10.1038/s41431-018-0185-4

Grassia F, Poliakov AV, Poliachik SL, Casimo K, Friedman SD, Shurtleff H, Giussani C, Novotny EJ Jr, Ojemann JG, Hauptman JS. Changes in resting-state connectivity in pediatric temporal lobe epilepsy. J Neurosurg Pediatr. 2018 Jun 22:1-6. doi: 10.3171/2018.3.PEDS17701

Liu WA, Chen S, Li Z, Lee CH, Mirzaa G, Dobyns WB, Ross ME, Zhang J, Shi SH PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia. Genes Dev. 2018 Jun 1;32(11-12):763-780. doi: 10.1101/gad.313171.118. Epub 2018 Jun 13

Shukla A, Saneto RP, Hebbar M, Mirzaa G, Girisha KM. A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ. Am J Med Genet A. 2018 May;176(5):1232-1237. doi: 10.1002/ajmg.a.38687.

Sánchez Fernández I, Gaínza-Lein M, Abend NS, Anderson AE, Arya R, Brenton JN, Carpenter JL, Chapman KE, Clark J, Gaillard WD, Glauser TA, Goldstein JL, Goodkin HP, Helseth AR, Jackson MC, Kapur K, Lai YC, McDonough TL, Mikati MA, Nayak A,Peariso K, Riviello JJ Jr, Tasker RC, Tchapyjnikov D, Topjian AA, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG). Factors associated with treatment delays in pediatric refractory convulsive status epilepticus. Neurology. 2018 May 8;90(19):e1692-e1701. doi: 10.1212/WNL.0000000000005488

Kannan N, Wang J, Mink RB, Wainwright MS, Groner JI, Bell MJ, Giza CC, Zatzick DF, Ellenbogen RG, Boyle LN, Mitchell PH, Rivara FP, Rowhani-Rahbar A, Vavilala MS; PEGASUS (Pediatric Guideline Adherence Outcomes) Study. Timely Hemodynamic Resuscitation and Outcomes in Severe Pediatric Traumatic Brain Injury: Preliminary Findings. Pediatr Emerg Care. 2018 May;34(5):325-329. doi:
10.1097/PEC.0000000000000803.

Leibovitz Z, Mandel H, Falik-Zaccai TC, Ben Harouch S, Savitzki D, Krajden-Haratz K, Gindes L, Tamarkin M, Lev D, Dobyns WB, Lerman-Sagie T. Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. Eur J Paediatr Neurol. 2018 May;22(3):525-531. doi: 10.1016/j.ejpn.2017.12.012..

Heinzen EL, O’Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M; Epi4K Consortium; Epilepsy Phenome/Genome Project. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet.2018 May 8;14(5):e1007281. doi: 10.1371/journal.pgen.1007281.

Grinspan ZM, Shellhaas RA, Coryell J, Sullivan JE, Wirrell EC, Mytinger JR, Gaillard WD, Kossoff EH, Valencia I, Knupp KG, Wusthoff C, Keator C, Ryan N, Loddenkemper T, Chu CJ, Novotny EJ Jr, Millichap J, Berg AT. Comparative Effectiveness of Levetiracetam vs Phenobarbital for Infantile Epilepsy. JAMA Pediatr. 2018 Apr 1;172(4):352-360. doi: 10.1001/jamapediatrics.2017.5211.

Gaínza-Lein M, Sánchez Fernández I, Jackson M, Abend NS, Arya R, Brenton JN, Carpenter JL, Chapman KE, Gaillard WD, Glauser TA, Goldstein JL, Goodkin HP, Kapur K, Mikati MA, Peariso K, Tasker RC, Tchapyjnikov D, Topjian AA, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group. Association of Time to Treatment With Short-term Outcomes for Pediatric Patients With Refractory Convulsive Status Epilepticus. JAMA Neurol. 2018 Apr 1;75(4):410-418. doi: 10.1001/jamaneurol.2017.4382.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E,Ross ME, Ledbetter DH, Guerrini R, Dobyns WB. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018 Apr 19. doi: 10.1038/gim.2018.8.

Adams Waldorf KM, Nelson BR, Stencel-Baerenwald JE, Studholme C, Kapur RP, Armistead B, Walker CL, Merillat S, Vornhagen J, Tisoncik-Go J, Baldessari A, Coleman M, Dighe MK, Shaw DWW, Roby JA, Santana-Ufret V, Boldenow E, Li J, Gao X,Davis MA, Swanstrom JA, Jensen K, Widman DG, Baric RS, Medwid JT, Hanley KA, Ogle J, Gough GM, Lee W, English C, Durning WM, Thiel J, Gatenby C, Dewey EC, Fairgrieve MR, Hodge RD, Grant RF, Kuller L, Dobyns WB, Hevner RF, Gale M Jr, Rajagopal L. Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain. Nat Med. 2018 Mar;24(3):368-374. doi:10.1038/nm.4485.

Berg AT, Chakravorty S, Koh S, Grinspan ZM, Shellhaas RA, Saneto RP, Wirrell EC, Coryell J, Chu CJ, Mytinger JR, Gaillard WD, Valencia I, Knupp KG, Loddenkemper T, Sullivan JE, Poduri A, Millichap JJ, Keator C, Wusthoff C, Ryan N, Dobyns WB, Hegde M. Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. PLoS One. 2018 Mar 8;13(3):e0193599. doi: 10.1371/journal.pone.0193599

Monroe EJ, Amlie-Lefond CM. Cone beam computed tomography-guided transpterygoidal aspiration of a carotid space abscess in Lemierre’s syndrome. Radiol Case Rep. 2018 Mar 30;13(3):618-621. doi: 10.1016/j.radcr.2018.03.007

Ruggeri G, Timms AE, Cheng C, Weiss A, Kollros P, Chapman T, Tully H, Mirzaa GM. Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus. Am J Med Genet A. 2018 Mar;176(3):676-681. doi:10.1002/ajmg.a.38592.

Amlie-Lefond C. Evaluation and Acute Management of Ischemic Stroke in Infants and Children. Continuum (Minneap Minn). 2018 Feb;24(1, Child Neurology):150-170. doi:

Natarajan NBeatty CWGust JHamiwka L. Provider Practices of Phenobarbital Discontinuation in Neonatal Seizures. J Child Neurol. 2018 Feb;33(2):153-157.doi: 10.1177/0883073817745990

Weaver KE, Poliakov A, Novotny EJ, Olson JD, Grabowski TJ, Ojemann JG.Electrocorticography and the early maturation of high-frequency suppression within the default mode network. J Neurosurg Pediatr. 2018 Feb;21(2):133-140. doi: 10.3171/2017.7.PEDS17269. Epub 2017 Dec 1.

Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R. Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. Genet Med. 2018 Feb;20(2):223-233. doi: 10.1038/gim.2017.94.

Wainwright MS. Neurologic Complications in the Pediatric Intensive Care Unit. Continuum (Minneap Minn). 2018 Feb;24(1, Child Neurology):288-299. doi:10.1212/CON.0000000000000565

Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA,Layet V, Giuliano F, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL,Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain. 2018 Jan 22. doi:10.1093/brain/awx358.

Wang AC, Ibrahim GM, Poliakov AV, Wang PI, Fallah A, Mathern GW, Buckley RT,Collins K, Weil AG, Shurtleff HAWarner MH, Perez FA, Shaw DW, Wright JN, Saneto RPNovotny EJ, Lee A, Browd SR, Ojemann JG. Corticospinal tract atrophy and motor fMRI predict motor preservation after functional cerebral hemispherectomy. J Neurosurg Pediatr. 2018 Jan;21(1):81-89. doi: 0.3171/2017.7.PEDS17137.

Steiner JE, McCoy GN, Hess CP, Dobyns WB, Metry DW, Drolet BA, Maheshwari M, Siegel DH. Structural malformations of the brain, eye, and pituitary

2017

Amlie-Lefond CM, Pavlakis SG. Preventing cognitive decline in sickle cell disease: A good night’s sleep. Neurology. 2017 Dec 12;89(24):2402-2403. doi: 10.1212/WNL.0000000000004754

Gust J, Hay KA, Hanafi LA, Li D, Myerson D, Gonzalez-Cuyar LF, Yeung C, Liles WC, Wurfel M, Lopez JA, Chen J, Chung D, Harju-Baker S, Özpolat T, Fink KR,Riddell SR, Maloney DG, Turtle CJ. Endothelial Activation and Blood-Brain Barrier Disruption in Neurotoxicity after Adoptive Immunotherapy with CD19 CAR-T Cells.Cancer Discov. 2017 Dec;7(12):1404-1419. doi: 10.1158/2159-8290.CD-17-0698.

Demarest ST, Shellhaas RA, Gaillard WD, Keator C, Nickels KC, Hussain SA, Loddenkemper T, Patel AD, Saneto RP, Wirrell E, Sánchez Fernández I, Chu CJ, Grinspan Z, Wusthoff CJ, Joshi S, Mohamed IS, Stafstrom CE, Stack CV, Yozawitz E, Bluvstein JS, Singh RK, Knupp KG; Pediatric Epilepsy Research Consortium. The impact of hypsarrhythmia on infantile spasms treatment response: Observational
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Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C,Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE,Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M,McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F,Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.107.

Hay KA, Hanafi LA, Li D, Gust J, Liles WC, Wurfel MM, López JA, Chen J, Chung D, Harju-Baker S, Cherian S, Chen X, Riddell SR, Maloney DG, Turtle CJ. Kinetics and biomarkers of severe cytokine release syndrome after CD19 chimeric antigenreceptor-modified T-cell therapy. Blood. 2017 Nov 23;130(21):2295-2306. doi:10.1182/blood-2017-06-793141. Epub 2017 Sep 18. PubMed PMID: 28924019; PubMed

Shellhaas RA, Berg AT, Grinspan ZM, Wusthoff CJ, Millichap JJ, Loddenkemper T,Coryell J, Saneto RP, Chu CJ, Joshi SM, Sullivan JE, Knupp KG, Kossoff EH, Keator C, Wirrell EC, Mytinger JR, Valencia I, Massey S, Gaillard WD. Initial Treatment for Nonsyndromic Early-Life Epilepsy: An Unexpected Consensus. Pediatr Neurol.2017 Oct;75:73-79. doi: 10.1016/j.pediatrneurol.2017.06.011.

Kirk V, Baughn J, D’Andrea L, Friedman N, Galion A, Garetz S, Hassan F, Wrede J, Harrod CG, Malhotra RK. American Academy of Sleep Medicine Position Paper for the Use of a Home Sleep Apnea Test for the Diagnosis of OSA in Children. J Clin Sleep Med. 2017 Oct 15;13(10):1199-1203. doi: 0.5664/jcsm.6772.

Rilinger JF, Smith CM, deRegnier RAO, Goldstein JL, Mills MG, Reynolds M, Backer CL, Burrowes DM, Mehta P, Piantino J, Wainwright MS. Transcranial Doppler Identification of Neurologic Injury during Pediatric Extracorporeal Membrane Oxygenation Therapy. J Stroke Cerebrovasc Dis. 2017 Oct;26(10):2336-2345. doi:10.1016/j.jstrokecerebrovasdis.2017.05.022

De Mori R, Romani M, D’Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T,Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28

Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O’Driscoll M, Mirzaa GM. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203

Saneto RP. Genetics of Mitochondrial Disease. Adv Genet. 2017;98:63-116. doi:
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Berg AT, Coryell J, Saneto RP, Grinspan ZM, Alexander JJ, Kekis M, Sullivan JE, Wirrell EC, Shellhaas RA, Mytinger JR, Gaillard WD, Kossoff EH, Valencia I, Knupp KG, Wusthoff C, Keator C, Dobyns WB, Ryan N, Loddenkemper T, Chu CJ, Novotny EJ Jr, Koh S. Early-Life Epilepsies and the Emerging Role of Genetic Testing. JAMA Pediatr. 2017 Sep 1;171(9):863-871. doi:10.1001/jamapediatrics.2017.1743..

Rosenthal ES, Claassen J, Wainwright MS, Husain AM, Vaitkevicius H, Raines S, Hoffmann E, Colquhoun H, Doherty JJ, Kanes SJ. Brexanolone as adjunctive therapy in super-refractory status epilepticus. Ann Neurol. 2017 Sep;82(3):342-352. doi: 10.1002/ana.25008.

Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR,Kutsche K, Guerrini R. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 2017 Sep 1;140(9):2322-2336. doi:

Berg AT, Coryell J, Saneto RP, Grinspan ZM, Alexander JJ, Kekis M, Sullivan JE, Wirrell EC, Shellhaas RA, Mytinger JR, Gaillard WD, Kossoff EH, Valencia I,Knupp KG, Wusthoff C, Keator C, Dobyns WB, Ryan N, Loddenkemper T, Chu CJ, Novotny EJ Jr, Koh S. Early-Life Epilepsies and the Emerging Role of Genetic Testing. JAMA Pediatr. 2017 Sep 1;171(9):863-871. doi:10.1001/jamapediatrics.2017.1743.
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Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM,Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM,van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ,Fornerod M, Mancini GMS. Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 2017 Aug 1;13(8):e1006923. doi: 10.1371/journal.pgen.1006923. eCollection 2017 Aug. PubMed

McAdams RM, Fleiss B, Traudt C, Schwendimann L, Snyder JM, Haynes RL, Natarajan N, Gressens P, Juul SE. Long-Term Neuropathological Changes Associated with Cerebral Palsy in a Nonhuman Primate Model of Hypoxic-IschemicEncephalopathy. Dev Neurosci. 2017;39(1-4):124-140. doi: 10.1159/000470903

Novotny EJ Jr. Early genetic testing for neonatal epilepsy: When, why, and how? Neurology. 2017 Aug 29;89(9):880-881. doi: 10.1212/WNL.0000000000004287.

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, MuirAM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I,Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA,Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. GRIN2B encephalopathy: novel findings on phenotype, variant clustering,functional consequences and treatment aspects. J Med Genet. 2017Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509.

Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS,Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for MendelianGenomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, RoepmanR, Bachmann-Gagescu R, Doherty D. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub
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AJ, Guerrini R, Dobyns WB. Lissencephaly: Expanded imaging and clinical classification. Am J Med Genet A. 2017 Jun;173(6):1473-1488. doi:10.1002/ajmg.a.38245. Epub 2017 Apr 25.

Keros S, Buraniqi E, Alex B, Antonetty A, Fialho H, Hafeez B, Jackson MC, Jawahar R, Kjelleren S, Stewart E, Morgan LAWainwright MS, Sogawa Y, Patel AD, Loddenkemper T, Grinspan ZM. Increasing Ketamine Use for Refractory Status Epilepticus in US Pediatric Hospitals. J Child Neurol. 2017 Jun;32(7):638-646.doi: 10.1177/0883073817698629

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML,Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10

Kurz JE, Smith CM, Wainwright MS. Thermoregulate, autoregulate and ventilate: brain-directed critical care for pediatric cardiac arrest. Curr Opin Pediatr.2017 Jun;29(3):259-265. Doi. Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB. Lissencephaly: Expanded imaging and clinical classification. Am J Med Genet A. 2017 Jun;173(6):1473-1488. doi:10.1002/ajmg.a.38245. Epub 2017 Apr 250.1097/MOP.0000000000000482:.

Ducharme-Crevier L, Press CA, Kurz JE, Mills MG, Goldstein JL, Wainwright MS. Early Presence of Sleep Spindles on Electroencephalography Is Associated With Good Outcome After Pediatric Cardiac Arrest. Pediatr Crit Care Med. 2017 May;18(5):452-460. doi: 10.1097/PCC.0000000000001137

Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D.Mortality in Joubert syndrome. Am J Med Genet A. 2017 May;173(5):1237-1242. doi: 10.1002/ajmg.a.38158.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS. Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 2017 May 25;13(5):e1006809. doi: 10.1371/journal.pgen.1006809. eCollection 2017 May. Erratum in: PLoS Genet. 2017
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Mahdi J, Shah AC, Sato A, Morris SM, McKinstry RC, Listernick R, Packer RJ,Fisher MJ, Gutmann DH. A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1. Neurology. 2017 Apr 18;88(16):1584-1589. doi: 10.1212/WNL.0000000000003881

Blume HK. Neurological Disorders in Primary Care Pediatrics. Pediatr Ann. 2017 Apr 1;46(4):e131-e132. doi: 10.3928/19382359-20170321-01

Lee S, Mirsky DM, Beslow LA, Amlie-Lefond C, Danehy AR, Lehman L, Stence NV, Vossough A, Wintermark M, Rivkin MJ; International Paediatric Stroke Study Neuroimaging Consortium and the Paediatric Stroke Neuroimaging Consortium. Pathways for Neuroimaging of Neonatal Stroke. Pediatr Neurol. 2017 Apr;69:37-48.doi:10.1016/j.pediatrneurol.2016.12.008.

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Randle SC. Tuberous Sclerosis Complex: A Review. Pediatr Ann. 2017 Apr
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Moore CA, Staples JE, Dobyns WB, Pessoa A, Ventura CV, Fonseca EB, RibeiroEM, Ventura LO, Neto NN, Arena JF, Rasmussen SA. Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians. JAMA Pediatr. 2017 Mar 1;171(3):288-295. doi: 10.1001/jamapediatrics.2016.3982. Review

Natarajan N, Pardo AC. Challenges in neurologic prognostication after neonatal brain injury. Semin Perinatol. 2017 Mar;41(2):117-123. doi:10.1053/j.semperi.2016.11.008. Epub 2017 Jan 28. Review. PubMed PMID: 28139254.

Amlie-Lefond C, Ojemann JG. Neonatal Hemorrhagic Stroke. JAMA Pediatr. 2017 Mar 1;171(3):220-221. doi: 10.1001/jamapediatrics.2016.4466

Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A,Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG. Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16.

McDonald CL, Saneto RP, Carmant L, Sotero de Menezes MA. Focal Seizures in Patients With SCN1A Mutations. J Child Neurol. 2017 Feb;32(2):170-176. doi: 10.1177/0883073816672379

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Wenger TL, Chow P, Randle SC, Rosen A, Birgfeld C, Wrede J, Javid P, King D, Manh V, Hing AV, Albers E.Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome. Am J Med Genet A. 2017 Feb;173(2):414-420.

Piao CS, Holloway AL, Hong-Routson S, Wainwright MS. Depression following traumatic brain injury in mice is associated with down-regulation of hippocampal astrocyte glutamate transporters by thrombin. J Cereb Blood Flow Metab. 2017 Jan 1:271678X17742792. doi: 10.

Brun BN, Mockler SR, Laubscher KM, Stephan CM, Wallace AM, Collison JA,Zimmerman MB, Dobyns WB, Mathews KD. Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. Neurology. 2017 Feb 14;88(7):623-629. doi: 10.1212/WNL.0000000000003609. Epub 2017 Jan 13. .

Kannan N, Quistberg A, Wang J, Groner JI, Mink RB, Wainwright MS, Bell MJ, Giza CC, Zatzick DF, Ellenbogen RG, Boyle LN, Mitchell PH, Vavilala MS. Frequency of and factors associated with emergency department intracranial pressure monitor placement in severe paediatric traumatic brain injury. Brain Inj.
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Gorman KM, Wainwright MS. Adult Stroke Screening Tool in Childhood IschemicStroke. Pediatr Neurol Briefs. 2017 Jan;31(1):3. doi:10.15844/pedneurbriefs-31-1-3.

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Press CA, Morgan L, Mills M, Stack CV, Goldstein JL, Alonso EM, Wainwright MS. Spectral Electroencephalogram Analysis for the Evaluation of Encephalopathy Grade in Children With Acute Liver Failure. Pediatr Crit Care Med. 2017 Jan;18(1):64-72. doi: 10.1097/PCC.0000000000001016

Haldipur P, Dang D, Aldinger KA, Janson OK, Guimiot F, Adle-Biasette H, Dobyns WB, Siebert JR, Russo R, Millen KJ. Phenotypic outcomes in Mouse and HumanFoxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.Elife. 2017 Jan 16;6. pii: e20898. doi: 10.7554/eLife.20898

Byers HM, Adam MP, LaCroix A, Leary SE, Cole B, Dobyns WB, Mefford HC.Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22. Am J Med Genet A. 2017 Jan;173(1):245-249. doi: 10.1002/ajmg.a.37993. Epub 2016 Oct 12

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Ducharme-Crevier L, Mills MG, Mehta PM, Smith CM, Wainwright MS. Use of Transcranial Doppler for Management of Central Nervous System Infections in Critically Ill Children. Pediatr Neurol. 2016 Dec;65:52-58.e2. doi: 10.1016/j.pediatrneurol.2016.08.027.

Mohammad S, Wolfe LA, Stöbe P, Biskup S, Wainwright MS, Melin-Aldana H, Malladi P, Muenke M, Gahl WA, Whitington PF. Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B. J Pediatr. 2016 Dec;179:144-149.e2. doi: 0.1016/j.jpeds.2016.08.043

Leto K, Arancillo M, Becker EB, Buffo A, Chiang C, Ding B, Dobyns WB, Dusart I, Haldipur P, Hatten ME, Hoshino M, Joyner AL, Kano M, Kilpatrick DL, Koibuchi N, Marino S, Martinez S, Millen KJ, Millner TO, Miyata T, Parmigiani E, Schilling K, Sekerková G, Sillitoe RV, Sotelo C, Uesaka N, Wefers A, Wingate RJ, Hawkes R. Consensus Paper: Cerebellar Development. Cerebellum. 2016 Dec;15(6):789-828.Review

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Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D’Angelo D, Chen Q, Chung WK, Sherr EH; Simons VIP Consortium. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A. 2016 Nov;170(11):2943-2955. doi:10.1002/ajmg.a.37820.

Kim J, Liao YH, Ionita C, Bale AE, Darras B, Acsadi G. Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile AmyotrophicLateral Sclerosis. Pediatr Neurol. 2016 Nov;64:83-86. doi:10.1016/j.pediatrneurol.2016.08.013.

Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR,Neuhann TM, Dobyns WB, Laing NG. Recurrent de novo BICD2 mutation associated witharthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.Neuromuscul Disord. 2016 Nov;26(11):744-748. doi: 10.1016/j.nmd.2016.09.009. Epub
2016 Sep 19.

Adams Waldorf KM, Stencel-Baerenwald JE, Kapur RP, Studholme C, Boldenow E,Vornhagen J, Baldessari A, Dighe MK, Thiel J, Merillat S, Armistead B,Tisoncik-Go J, Green RR, Davis MA, Dewey EC, Fairgrieve MR, Gatenby JC, Richards T, Garden GA, Diamond MS, Juul SE, Grant RF, Kuller L, Shaw DW, Ogle J, Gough GM,Lee W, English C, Hevner RF, Dobyns WB, Gale M Jr, Rajagopal L. Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate. Nat Med. 2016 Nov;22(11):1256-1259. doi: 10.1038/nm.4193. Epub 2016 Sep

Ma M, Adams HR, Seltzer LE, Dobyns WB, Paciorkowski AR. Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. J Pediatr. 2016 Nov;178:233-240.e10. doi:10.1016/j.jpeds.2016.08.032. Epub 2016 Sep 15.

Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S,Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Am J Hum Genet. 2016 Nov 3;99(5):1117-1129. doi: 10.1016/j.ajhg.2016.09.010. Epub 2016 Oct 20

Tully HM, Wenger TL, Kukull WA, Doherty D, Dobyns WB. Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage. Neurosurg Focus. 2016 Nov;41(5):E5.

Bernard TJ, Beslow LA, Manco-Johnson MJ, Armstrong-Wells J, Boada R, Weitzenkamp D, Hollatz A, Poisson S, Amlie-Lefond C, Lo W, deVeber G, Goldenberg NA, Dowling MM, Roach ES, Fullerton HJ, Benseler SM, Jordan LC, Kirton A, Ichord RN. Inter-Rater Reliability of the CASCADE Criteria: Challenges in Classifying Arteriopathies. Stroke. 2016 Oct;47(10):2443-9. doi:10.1161/STROKEAHA.116.013544. Epub 2016 Sep 15.

Tasker RC, Goodkin HP, Sánchez Fernández I, Chapman KE, Abend NS, Arya R,Brenton JN, Carpenter JL, Gaillard WD, Glauser TA, Goldstein J, Helseth AR,Jackson MC, Kapur K, Mikati MA, Peariso K, Wainwright MS, Wilfong AA, Williams K,Loddenkemper T; Pediatric Status Epilepticus Research Group. Refractory Status Epilepticus in Children: Intention to Treat With Continuous Infusions of Midazolam and Pentobarbital. Pediatr Crit Care Med. 2016 Oct;17(10):968-975

Buckley RT, Wang AC, Miller JW, Novotny EJ, Ojemann JG. Stereotactic laser ablation for hypothalamic and deep intraventricular lesions. Neurosurg Focus.2016 Oct;41(4):E10.

Ostahowski PJ, Kannan N, Wainwright MS, Qiu Q, Mink RB, Groner JI, Bell MJ,Giza CC, Zatzick DF, Ellenbogen RG, Boyle LN, Mitchell PH, Vavilala MS; PEGASUS (Pediatric Guideline Adherence and Outcomes) Study. Variation in seizure prophylaxis in severe pediatric traumatic brain injury. J Neurosurg Pediatr. 2016 Oct;18(4):499-506..

Weisleder P, Gospe SM Jr, Ng YT, Sahin M. The Pediatric Neurology Trainee Publication Award for 2015. Pediatr Neurol. 2016 Oct;63:1-2. doi: 10.1016/j.pediatrneurol.2016.07.004.

Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N,Stabley D, Sol-Church K, Timms AE, Dobyns WB. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am J Med Genet A. 2016 Sep;170(9):2237-47. doi:10.1002/ajmg.a.37781.

Parrini E, Conti V, Dobyns WB, Guerrini R. Genetic Basis of Brain Malformations. Mol Syndromol. 2016 Sep;7(4):220-233. Epub 2016 Aug 27. Review.

Natarajan NTully HM, Chapman T. Prenatal presentation of pyruvate dehydrogenase complex deficiency. Pediatr Radiol. 2016 Aug; 46(9):1354-7. doi:10.1007/s00247-016-3585-z.

Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB. Syndrome of Hepatic Cirrhosis, Dystonia,Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man. Am J Hum Genet. 2016 Aug 4;99(2):521. doi: 10.1016/j.ajhg.2016.07.015.

Nickels KC, Zaccariello MJ, Hamiwka LD, Wirrell EC. Cognitive and neurodevelopmental comorbidities in paediatric epilepsy. Nat Rev Neurol. 2016 Aug;12(8):465-76. doi: 10.1038/nrneurol.2016.98..

Tsuchida TN, Acharya JN, Halford JJ, Kuratani JD, Sinha SR, Stecker MM, Tatum WO 4th, Drislane FW. American Clinical Neurophysiology Society: EEG Guidelines Introduction. J Clin Neurophysiol. 2016 Aug;33(4):301-2. doi: 10.1097/WNP.0000000000000315.

Mossa-Basha M, de Havenon A, Becker KJ, Hallam DK, Levitt MR, Cohen WA, Hippe DS, Alexander MD, Tirschwell DL, Hatsukami T, Amlie-Lefond C, Yuan C. Added Value of Vessel Wall Magnetic Resonance Imaging in the Differentiation of Moyamoya Vasculopathies in a Non-Asian Cohort. Stroke. 2016 Jul;47(7):1782-8. doi: 10.1161/STROKEAHA.116.013320

Amlie-Lefond C, Gilden D. Varicella Zoster Virus: A Common Cause of Stroke in Children and Adults. J Stroke Cerebrovasc Dis. 2016 Jul;25(7):1561-1569. doi:10.1016/j.jstrokecerebrovasdis.2016.03.052. Epub 2016 Apr 29. Review

Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM,Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, MuznyDM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RPNovotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 Jul 1;73(7):836-845. doi: 10.1001/jamaneurol.2016.0363.

Casimo K, Darvas F, Wander J, Ko A, Grabowski TJ, Novotny E, Poliakov A, Ojemann JG, Weaver KE. Regional Patterns of Cortical Phase Synchrony in the Resting State. Brain Connect. 2016 Jul;6(6):470-81. doi: 10.1089/brain.2015.0362. Epub 2016 May 2.

Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H,Niyazov D, Saneto RPWainwright MS, Wusthoff C, McFarland R, Scaglia F. Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Mol Genet Metab. 2016 Jul;118(3):178-84. doi: 10.1016/j.ymgme.2016.04.009

Saneto RP. Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team. J Multidiscip Healthc. 2016 Jul 26;9:323-33. doi:10.2147/JMDH.S84900. eCollection 2016. Review.

Kurz JE, Poloyac SM, Abend NS, Fabio A, Bell MJ, Wainwright MS; Investigators for the Approaches and Decisions in Acute Pediatric TBI Trial. Variation in Anticonvulsant Selection and Electroencephalographic Monitoring Following Severe Traumatic Brain Injury in Children-Understanding Resource Availability in Sites Participating in a Comparative Effectiveness Study. Pediatr Crit Care Med. 2016 Jul;17(7):649-57. doi: 10.1097/PCC.0000000000000765.

Byers HM, Beatty CW, Hahn SH, Gospe SM Jr. Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De NovoCACNA1A Variant. Pediatr Neurol. 2016 Jul;60:79-82. doi: 10.1016/j.pediatrneurol.2016.03.012. Epub 2016 Apr 1.

Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J,Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016 Jun 2;98(6):1256-1265. doi: 10.1016/j.ajhg.2016.04.007. Epub 2016 May 26.

Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, StewartF, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O’Connor BC, Keegan CE, Yin LJ, Lai AH, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE,Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016 Jun 16;1(9). pii: e87623.

Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet. 2016
Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511.

Aldinger KA, Mendelsohn NJ, Chung BH, Zhang W, Cohn DH, Fernandez B, Alkuraya FS, Dobyns WB, Curry CJ. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. J Med Genet. 2016 Jun;53(6):427-30. doi:10.1136/jmedgenet-2015-103476

Tully HM, Kukull WA, Mueller BA. Clinical and Surgical Factors Associated With Increased Epilepsy Risk in Children With Hydrocephalus. Pediatr Neurol. 2016 Jun;59:18-22. doi: 10.1016/j.pediatrneurol.2016.02.011

Chi DL, Momany ET, Mancl LA, Lindgren SD, Zinner SH, Steinman KJ. Dental Homes for Children With Autism: A Longitudinal Analysis of Iowa Medicaid’s I-Smile Program. Am J Prev Med. 2016 May;50(5):609-615. doi:10.1016/j.amepre.2015.08.022. Epub 2015 Oct 26.

Hong CS, Wang AC, Bonow RH, Abecassis IJ, Amlie-Lefond C, Ellenbogen RG. Moyamoya Disease in a Patient with VACTERL Association. World Neurosurg. 2016 May;89:729.e7-729.e10. doi: 10.1016/j.wneu.2016.01.059. Epub 2016 Feb 2.

Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK; Simons VIP consortium. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2016 Apr;18(4):341-9. doi: 10.1038/gim.2015.78.

Alqahtani MF, Smith CM, Weiss SL, Dawson S, Ralay Ranaivo H, Wainwright MS. Evaluation of New Diagnostic Biomarkers in Pediatric Sepsis: Matrix Metalloproteinase-9, Tissue Inhibitor of Metalloproteinase-1, Mid-Regional Pro-Atrial Natriuretic Peptide, and Adipocyte Fatty-Acid Binding Protein. PLoS One. 2016 Apr 18;11(4):e0153645. doi: 10.1371/journal.pone.0153645. eCollection
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Lockrow J, Longstreth W, Davis AP. Intracranial Aneurysms From Presumed Infective Endocarditis: The Dilemma of Persistently Negative Cultures. Neurohospitalist. 2016 Apr;6(2):80-6. doi: 10.1177/1941874415605879. Epub 2015 Sep 21

Bernard TJ, Friedman NR, Stence NV, Jones W, Ichord R, Amlie-Lefond C, Dowling MM, Rivkin MJ. Preparing for a “Pediatric Stroke Alert”. Pediatr Neurol. 2016 Mar;56:18-24. doi: 10.1016/j.pediatrneurol.2015.10.012. Epub 2015 Dec 11.Review.

Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics; Care4Rare Canada Consortium, Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O’Driscoll M, Moog U, McDonell LM. Mosaic Activating Mutations in FGFR1 Cause cephalocraniocutaneous Lipomatosis. Am J Hum Genet.2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006

Rivkin MJ, Bernard TJ, Dowling MM, Amlie-Lefond C. Guidelines for Urgent Management of Stroke in Children. Pediatr Neurol. 2016 Mar;56:8-17. doi:10.1016/j.pediatrneurol.2016.01.016. Epub 2016 Jan 21. Review. Erratum in:Pediatr Neurol. 2016 Nov;64:105.

Tully HM, Ishak GE, Rue TC, Dempsey JC, Browd SR, Millen KJ, Doherty D, Dobyns WB. Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences. J Child Neurol. 2016 Mar;31(3):309-20. doi:10.1177/0883073815592222

Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, Tkachenko N, Milano V, Fradin M, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB,Weaver DD, Gibson WT. Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. Hum Mutat. 2016 Mar;37(3):301-7. doi: 10.1002/humu.22946. Epub 2016 Jan 12.

Di Donato N, Rump A, Mirzaa GM, Alcantara D, Oliver A, Schrock E, Dobyns WB, O’Driscoll M. Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of
“PIK3CA-Related Overgrowth Spectrum”. Hum Mutat. 2016 Mar;37(3):242-5. doi:10.1002/humu.22933. Epub 2015 Dec 15.

Elkind MS, Hills NK, Glaser CA, Lo WD, Amlie-Lefond C, Dlamini N, Kneen R, Hod EA, Wintermark M, deVeber GA, Fullerton HJ; VIPS Investigators*. Herpesvirus Infections and Childhood Arterial Ischemic Stroke: Results of the VIPS Study.Circulation. 2016 Feb 23;133(8):732-41. doi: 10.1161/CIRCULATIONAHA.115.018595.Epub 2016 Jan 26.

Marin SE, Saneto RP. Neuropsychiatric Features in Primary Mitochondrial Disease. Neurol Clin. 2016 Feb;34(1):247-94. doi: 10.1016/j.ncl.2015.08.011. Review. PubMed PMID: 26614002.

Storey GP, Gonzalez-Fernandez G, Bamford IJ, Hur M, McKinley JW, Heimbigner L, Minasyan A, Walwyn WM, Bamford NS. Nicotine Modifies Corticostriatal Plasticity and Amphetamine Rewarding Behaviors in Mice(1,2,3). eNeuro. 2016 Feb 2;3(1). pii:ENEURO.0095-15.2015. doi: 10.1523/ENEURO.0095-15.2015. eCollection 2016 Jan-Feb

Burns TM, Smith GA, Allen JA, Amato AA, Arnold WD, Barohn R, Benatar M, Bird SJ, Bromberg M, Chahin N, Ciafaloni E, Cohen JA, Corse A, Crum BA, David WS, Dimberg E, Sousa EA, Donofrio PD, Dyck PJ, Engel AG, Ensrud ER, Ferrante M,Freimer M, Gable KL, Gibson S, Gilchrist JM, Goldstein JM, Gooch CL, Goodman BP, Gorelov D, Gospe SM Jr, Goyal NA, Guidon AC, Guptill JT, Gutmann L, Gutmann L,Gwathmey K, Harati Y, Harper CM Jr, Hehir MK, Hobson-Webb LD, Howard JF Jr,Jackson CE, Johnson N, Jones SM, Juel VC, Kaminski HJ, Karam C, Kennelly KD, Khella S, Khoury J, Kincaid JC, Kissel JT, Kolb N, Lacomis D, Ladha S, Larriviere D, Lewis RA, Li Y, Litchy WJ, Logigian E, Lou JS, MacGowen DJ, Maselli R, Massey JM, Mauermann ML, Mathews KD, Meriggioli MN, Miller RG, Moon JS, Mozaffar T, Nations SP, Nowak RJ, Ostrow LW, Pascuzzi RM, Peltier A, Ruzhansky K, Richman DP, Ross MA, Rubin DI, Russell JA, Sachs GM, Salajegheh MK, Saperstein DS, Scelsa S, Selcen D, Shaibani A, Shieh PB, Silvestri NJ, Singleton JR, Smith BE, So YT, Solorzano G, Sorenson EJ, Srinivasen J, Tavee J, Tawil R, Thaisetthawatkul P, Thornton C, Trivedi J, Vernino S, Wang AK, Webb TA, Weiss MD, Windebank AJ, Wolfe GI. Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine. Muscle Nerve. 2016 Feb;53(2):165-8.
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Berg AT, Dobyns WB. Progress in autism research and postgenomic studies -Authors’ reply. Lancet Neurol. 2016 Feb;15(2):136-137. doi:10.1016/S1474-4422(15)00403-2. Epub 2016 Jan 12

Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L,Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H,Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG,Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL,López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE,Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center, van de Kamp JM,van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium, Bulman DE, Boycott KM, Lines MA. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Hum Mutat. 2016 Feb;37(2):148-54.
doi: 10.1002/humu.22924. Epub 2015 Nov 19. Review

Amlie-Lefond C, Shaw D. Vascular disease. Handb Clin Neurol. 2016;136:1159-71. doi: 10.1016/B978-0-444-53486-6.00060-0. Review.

Amlie-Lefond C. Dissecting etiologies of posterior circulation stroke. Dev Med Child Neurol. 2016 Jan;58(1):10-1. doi: 10.1111/dmcn.12969

Olson JD, Wander JD, Johnson L, Sarma D, Weaver K, Novotny EJ, Ojemann JG,Darvas F. Comparison of subdural and subgaleal recordings of cortical high-gamma activity in humans. Clin Neurophysiol. 2016 Jan;127(1):277-284. doi:10.1016/j.clinph.2015.03.014.

D’Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A,Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F,Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C,Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK;Cardiff University Experiences of Children With Copy Number Variants (ECHO)Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP)Consortium. Defining the Effect of the 16p11.2 Duplication on Cognition,Behavior,and Medical Comorbidities. JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123

Poliachik SL, Friedman SD, Poliakov AV, Budech CB, Ishak GE, Shaw DW, Gospe SM Jr. Corpus Callosum Diffusion and Connectivity Features in High Functioning Subjects With Pyridoxine-Dependent Epilepsy. Pediatr Neurol. 2016 Jan;54:43-8. doi: 10.1016/j.pediatrneurol.2015.09.012.

Tsuchida TN, Acharya JN, Halford JJ, Kuratani JD, Sinha SR, Stecker MM, Tatum WO, Drislane FW. American Clinical Neurophysiology Society: EEG Guidelines Introduction. Neurodiagn J. 2016;56(4):231-234. doi:10.1080/21646821.2016.1245513.

2015

Amlie-Lefond C, Rivkin MJ, Friedman NR, Bernard TJ, Dowling MM, deVeber G.The Way Forward: Challenges and Opportunities in Pediatric Stroke. Pediatr Neurol. 2016 Mar;56:3-7. doi: 10.1016/j.pediatrneurol.2015.10.021. Epub 2015 Dec 10. PubMed PMID: 26803334.

Schwarz AC, Amlie-Lefond C. A 15-Year-Old Boy With Trisomy 21 and Postoperative Weakness. JAMA Pediatr. 2016 Jan;170(1):85-6. doi:10.1001/jamapediatrics.2015.1677.

Crealey M, Allen NM, Webb D, Bouldin A, Mc Sweeney N, Peake D, Tirupathi S, Butler K, King MD. Sydenham’s chorea: not gone but perhaps forgotten. Arch Dis Child. 2015 Dec;100(12):1160-2. doi: 10.1136/archdischild-2015-308693. Epub 2015 Sep 15

Roy A, Skibo J, Kalume F, Ni J, Rankin S, Lu Y, Dobyns WB, Mills GB, Zhao JJ, Baker SJ, Millen KJ. Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy. Elife. 2015 Dec 3;4. pii: e12703. doi:10.7554/eLife.12703..

Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K,Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R. haracterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015 Dec;14(12):1182-95. doi: 10.1016/S1474-4422(15)00278-1. Epub 2015 Oct 29.

McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH,Trump N, Kurian MA, Paciorkowski AR. Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. Am J Med Genet A. 2015 Dec;167A(12):3096-102.doi: 10.1002/ajmg.a.37353. Epub 2015 Sep 14.

Miller DT, Chung W, Nasir R, Shen Y, Steinman KJ, Wu BL, Hanson E. 16p11.2 Recurrent Microdeletion. 2009 Sep 22 [updated 2015 Dec 10]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.

Mirzaa GM, Collins S, Dobyns WB. Corrigendum to “Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86”. Am J Med Genet A. 2015 Nov 14. doi: 10.1002/ajmg.a.37449. [

Shurtleff HA, Barry D, Firman T, Warner MH, Aguilar-Estrada RL, Saneto RPKuratani JD, Ellenbogen RG, Novotny EJ, Ojemann JG. Impact of epilepsy surgery on development of preschool children: identification of a cohort likely to benefit from early intervention. J Neurosurg Pediatr. 2015 Oct;16(4):383-92. doi:10.3171/2015.3.PEDS14359

Wrede JE, Mengel-From J, Buchwald D, Vitiello MV, Bamshad M, Noonan C, Christiansen L, Christensen K, Watson NF. Mitochondrial DNA Copy Number in Sleep Duration Discordant Monozygotic Twins. Sleep. 2015 Oct 1;38(10):1655-8. doi:10.5665/sleep.5068

Feyissa EA, Cornell E, Chandhok L, Wang D, Ionita C, Schwab J, Kostyun R,Wilion F, Rubin K. Impact of Co-management at the Primary-Subspecialty Care Interface on Follow-up and Referral Patterns for Patients With Concussion. Clin Pediatr (Phila). 2015 Sep;54(10):969-75. doi: 0.1177/0009922814566929

Mefford HC, Zemel M, Geraghty E, Cook J, Clayton PT, Paul K, Plecko B, Mills PB, Nordli DR Jr, Gospe SM Jr. Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. Neurology. 2015 Sep 1;85(9):756-62. doi: 10.1212/WNL.0000000000001883.

Arredondo J, Lara M, Gospe SM Jr, Mazia CG, Vaccarezza M, Garcia-Erro M, Bowe CM, Chang CH, Mezei MM, Maselli RA. Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations. Hum Mutat. 2015 Sep;36(9):881-93. doi: 10.1002/humu.22823

Oegema R, Cushion TD, Phelps IG, Chung SK, Dempsey JC, Collins S, Mullins JG,Dudding T, Gill H, Green AJ, Dobyns WB, Ishak GE, Rees MI, Doherty D.Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. Hum Mol Genet. 2015 Sep 15;24(18):5313-25. doi: 10.1093/hmg/ddv250. Epub 2015 Jun 30.

Blume HK. Headaches after Concussion in Pediatrics: a Review. Curr Pain Headache Rep. 2015 Sep;19(9):42. doi: 10.1007/s11916-015-0516-x. Review.

Ng YT, Gospe SM Jr, Sahin M. Pediatric Neurology 2014 Trainee Publication Award Winner: Dr. Mitchel T. Williams. Pediatr Neurol. 2015 Aug;53(2):103-4. doi:10.1016/j.pediatrneurol.2015.04.010.

Morgan LA, Buchhalter J. Psychogenic Paroxysmal Nonepileptic Events in Children: A Review. Pediatr Neurol. 2015 Jul;53(1):13-22.

Elbers J, Wainwright MSAmlie-Lefond C. The Pediatric Stroke Code: Early Management of the Child with Stroke. J Pediatr. 2015 Jul;167(1):19-24.e1-4. doi:10.1016/j.jpeds.2015.03.051. Epub 2015 May 1. PubMed PMID: 25937428. 21: Amlie-Lefond C, Ellenbogen RG. Factors associated with the presentation of moyamoya in childhood. J Stroke Cerebrovasc Dis. 2015 Jun;24(6):1204-10. doi:10.1016/j.jstrokecerebrovasdis.2015.01.018. Epub 2015 Apr 10.

Roth CL, Eslamy H, Werny D, Elfers C, Shaffer ML, Pihoker C, Ojemann J, Dobyns WB. Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity. Obesity (Silver Spring). 2015 Jun;23(6):1226-33. doi:10.1002/oby.21067. Epub 2015 Apr 17

Jansen LA, Mirzaa GM, Ishak GE, O’Roak BJ, Hiatt JB, Roden WH, Gunter SA,Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WB. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain. 2015 Jun;138(Pt 6):1613-28. doi: 10.1093/brain/awv045. Epub 2015 Feb 25.

Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D’Arrigo S, Strømme P, Boltshauser E, Stanzial F,Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F,Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S,Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30;4:e06602. doi: 10.7554/eLife.06602.

Barkovich AJ, Dobyns WB, Guerrini R. Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 2015 May 1;5(5):a022392. doi:10.1101/cshperspect.a022392. Review.

Berg AT, Dobyns WB. Progress in autism and related disorders of brain development. Lancet Neurol. 2015 Nov;14(11):1069-70. doi:10.1016/S1474-4422(15)00048-4. Epub 2015 Apr 16

Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR. De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015 Apr 2;96(4):682-90. doi:10.1016/j.ajhg.2015.02.013. Erratum in: Am J Hum Genet. 2015 Jun 4;96(6):1009.

Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC 3rd, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015 Apr;166(4):1048-54.e1-5. doi:10.1016/j.jpeds.2014.12.069. Epub 2015 Feb 11

Lerche H, Novotny EJ Jr. Microscopic brain structure revisited in genetic epilepsy. Neurology. 2015 Mar 31;84(13):1290-1. doi:10.1212/WNL.0000000000001427. Epub 2015 Mar 4.

Szabo A, Hill MD, Scholz K, Amlie-Lefond C. Thrombolysis in pediatric stroke study. Stroke. 2015 Mar;46(3):880-5. doi: 10.1161/STROKEAHA.114.008210. Epub 2015 Jan 22.

Tully HM, Capote RT, Saltzman BS. Maternal and infant factors associated with infancy-onset hydrocephalus in Washington State. Pediatr Neurol. 2015 Mar;52(3):320-5. doi: 0.1016/j.pediatrneurol.2014.10.030.

Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S. Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.Epilepsia. 2015 Mar;56(3):422-30. doi: 10.1111/epi.12914. Epub 2015 Feb 5..

Choe MC, Blume HK. Pediatric Posttraumatic Headache: A Review. J Child Neurol. 2016 Jan;31(1):76-85. doi: 10.1177/0883073814568152. Epub 2015 Feb 10. PubMed

Simard-Tremblay E, Berry P, Owens A, Cook WB, Sittner HRMazzanti M, Huber J, Warner MShurtleff HSaneto RP. High-fat diets and seizure control in myoclonic-astatic epilepsy: a single center’s experience. Seizure. 2015 Feb;25:184-6. doi: 10.1016/j.seizure.2014.10.009

Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F,Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, HossniHAA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C,Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM,Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron.
2015 Jan 7;85(1):228. doi: 10.1016/j.neuron.2014.12.046.

Carapetian S (Randle), Hageman J, Lyons E, Leonard D, Janies K, Kelley K, Fuchs S. Emergency Department Evaluation and Management of Children With Simple Febrile Seizures. Clin Pediatr (Phila). 2015;54:992-8.

2014

Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C,Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM,Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron.2014 Dec 17;84(6):1226-39. doi: 10.1016/j.neuron.2014.12.014. Erratum in: Neuron.2015 Jan 7;85(1):228. Neuron. 2015 Jan 7;85(1):228

Mirzaa GM, Enyedi L, Parsons G, Collins S, Medne L, Adams C, Ward T, Davitt B, Bicknese A, Zackai E, Toriello H, Dobyns WB, Christian S. Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. Am J Med Genet A. 2014 Nov;164A(11):2879-86. doi: 10.1002/ajmg.a.36707. Epub 2014 Aug 12. Review. PubMed

Wainwright MS, Grimason M, Goldstein J, Smith CM, Amlie-Lefond C, Revivo G,Noah ZL, Harris ZL, Epstein LG. Building a pediatric neurocritical care program: a multidisciplinary approach to clinical practice and education from the intensive care unit to the outpatient clinic. Semin Pediatr Neurol. 2014 Dec;21(4):248-54. doi: 0.1016/j.spen.2014.10.006. Epub 2014 Nov 1.

Ruhoy ISSaneto RP. The genetics of Leigh syndrome and its implications for clinical practice and risk management. Appl Clin Genet. 2014 Nov 13;7:221-34. doi: 10.2147/TACG.S46176. eCollection 2014. Review..

Friedman SD, Ishak GE, Poliachik SL, Poliakov AV, Otto RK, Shaw DW, Willemsen MA, Bok LA, Gospe SM Jr. Callosal alterations in pyridoxine-dependent epilepsy.Dev Med Child Neurol. 2014 Nov;56(11):1106-10. doi: 10.1111/dmcn.12511. Epu

Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K,Gala U, Harel T, Pehlivan D, Penney S, Vissers LELM, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25;159(1):200-214. doi: 10.1016/j.cell.2014.09.002

French CR, Seshadri S, Destefano AL, Fornage M, Arnold CR, Gage PJ, Skarie JM, Dobyns WB, Millen KJ, Liu T, Dietz W, Kume T, Hofker M, Emery DJ, Childs SJ, Waskiewicz AJ, Lehmann OJ. Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease. J Clin Invest. 2014 Nov;124(11):4877-81. doi:10.1172/JCI75109. Epub 2014 Sep 24.

Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns WB, Borck G. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum Genet. 2015 Jan;134(1):45-51. doi: 10.1007/s00439-014-1487-4. Epub 2014 Sep 14.

Tully HMDobyns WB. Infantile hydrocephalus: a review of epidemiology, classification and causes. Eur J Med Genet. 2014 Aug;5(8):359-68. doi:10.1016/j.ejmg.2014.06.002.

Apkon SD, Grady R, Hart S, Lee A, McNalley T, Niswander L, Petersen J, Remley S, Rotenstein D, Shurtleff HWarner M, Walker WO Jr. Advances in the care of children with spina bifida. Adv Pediatr. 2014 Aug;61(1):33-74. doi:10.1016/j.yapd.2014.03.007

Dobyns WB, Das S. LIS1-Associated Lissencephaly/Subcortical Band Heterotopia.2009 Mar 3 [updated 2014 Aug 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE,Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from http://www.ncbi.nlm.nih.gov/books/NBK5189/.

Seltzer LE, Ma M, Ahmed S, Bertrand M, Dobyns WB, Wheless J, Paciorkowski AR Epilepsy and outcome in FOXG1-related disorders. Epilepsia. 2014 Aug;55(8):1292-300. doi: 10.1111/epi.12648. Epub WB. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. Am J Hum Genet. 2014 Apr 3;94(4):634-41. doi: 10.1016/j.ajhg.2014.03.009.:

Mirzaa GM, Millen KJ, Barkovich AJ, Dobyns WB, Paciorkowski AR. The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications. Am J Med Genet A. 2014 Jun;164A(6):1503-11. doi: 10.1002/ajmg.a.36517. Epub 2014 Apr 3. PubMed PMID:

Otten CE, Creutzfeldt CJ. Fulminant acute disseminated encephalomyelitis presenting in an adult. JAMA Neurol. 2014 71:648-9.

Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA,Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço, CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L,Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A,Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23.

Rivkin MJ, deVeber G, Ichord RN, Kirton A, Chan AK, Hovinga CA, Gill JC, Bernard TJ, Rivkin MJ, Scholz K, deVeber G, Kirton A, Gill JC, Chan AK,Hovinga CA, Ichord RN, Grotta JC, Jordan LC, Benedict S, Friedman NR, Dowling MM, Elbers J, Torres M, Sultan S, Cummings DD, Grabowski EF, McMillan HJ, Beslow LA, Amlie-Lefond C; Thrombolysis in Pediatric Stroke Study. Emergence of the primary pediatric stroke center: impact of the thrombolysis in pediatric stroke trial. Stroke. 2014 Jul;45(7):2018-23. doi: 10.1161/STROKEAHA.114.004919. Epub 2014 Jun 10

Beatty CW, Ko PR, Nixon J, Gospe SM Jr. Delayed-onset movement disorder and encephalopathy after oxycodone ingestion. Semin Pediatr Neurol. 2014 Jun;21(2):160-5. doi: 10.1016/j.spen.2014.06.009. Epub 2014 Jun 18. PubMed

Fernández-López D, Natarajan N, Ashwal S, Vexler ZS. Mechanisms of perinatal arterial ischemic stroke. J Cereb Blood Flow Metab. 2014 Jun;34(6):921-32. doi:10.1038/jcbfm.2014.41. Epub 2014 Mar 26. Review.

Tully HMDobyns WB. Infantile hydrocephalus: a review of epidemiology, classification and causes. Eur J Med Genet. 2014 Aug;57(8):359-68. doi:10.1016/j.ejmg.2014.06.002. Epub 2014 Jun 13. Review. PubMed PMID: 24932902;

Guerrini R, Dobyns WB. Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 2014 Jul;13(7):710-26. doi:10.1016/S1474-4422(14)70040-7. Epub 2014 Jun 2. Review.

Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, Tuttle E, Ghoneim D, Thio LL, Christian SL, Dobyns WB, Paschal BM. Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. Eur J Hum Genet. 2014 May;22(5):587-93. doi:10.1038/ejhg.2013.196. Epub 2013 Sep 18.

Pearl PL, Gospe SM Jr. Pyridoxine or pyridoxal-5′-phosphate for neonatal epilepsy: the distinction just got murkier. Neurology. 2014 Apr 22;82(16):1392-4.doi: 10.1212/WNL.0000000000000351

Wallace SE, Conta JH, Winder TL, Willer T, Eskuri JM, Haas R, Patterson K, Campbell KP, Moore SA, Gospe SM Jr. A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. Neuromuscul Disord. 2014 Apr;24(4):312-20. doi:10.1016/j.nmd.2014.01.001. Epub 2014 Jan 11.

Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet. 2014 Mar;22(3):363-8. doi:10.1038/ejhg.2013.135. Epub 2013 Jun 12.

Ruhoy IS, Merritt JL 2nd, Amlie-Lefond C. Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke. Pediatr Neurol. 2014 Jan;50(1):108-11. doi: d10.1016/j.pediatrneurol.2013.08.021. Epub 2013 Oct 15.

Amlie-Lefond C, Gill JC. Approach to acute ischemic stroke in childhood. Curr Treat Options Cardiovasc Med. 2014 Jan;16(1):276. doi: 10.1007/s11936-013-0276-z.

van Karnebeek CD, Stockler-Ipsiroglu S, Jaggumantri S, Assmann B, Baxter P,Buhas D, Bok LA, Cheng B, Coughlin CR 2nd, Das AM, Giezen A, Al-Hertani W, Ho G, Meyer U, Mills P, Plecko B, Struys E, Ueda K, Albersen M, Verhoeven N, Gospe SM Jr, Gallagher RC, Van Hove JK, Hartmann H. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus
Recommendations. JIMD Rep. 2014;15:1-11. doi: 10.1007/8904_2014_296.

Johnston JJ, Sapp JC, Curry C, Horton M, Leon E, Cusmano-Ozog K, Dobyns WB, Hudgins L, Zackai E, Biesecker LG. Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am J Med Genet A. 2014Jan;164A(1):120-8. doi: 10.1002/ajmg.a.36212.

Beatty CW, Creutzfeldt CJ, Davis AP, Hoffer Z, Khot SP. The diagnostic conundrum and treatment dilemma of a patient with a rapidly progressive encephalopathy. Neurohospitalist. 2014 Jan;4(1):34-41. doi:10.1177/1941874413496792.

Carapetian S (Randle), Hesselink J, Nass R, Trauner D, Stiles J. Face and location processing in children with early unilateral brain injury. Brain Cogn. 2014;88:6-13.