Representative Peer-Reviewed Faculty Publications


2005

Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. A developmental and genetic classification for malformations of cortical development. Neurology. 2005;65:1873-87.

Gospe, SM, Bell, RMS: Hospital pharmacy and emergency department availability of parenteral pyridoxine, Ped Emerg Care 2005;9:586-588.

Zerr, DM, Blume, HK, Berg, AT, Del Beccaro, MA, Gospe, SM, Allpress, AL, Christakis, DA: Nonfebrile illness seizures: a unique seizure category? Epilepsia 2005;46:952-955.

Bennett, CL, Huynh, HM, Chance, PF, Glass, IA, Gospe, SM. Genetic Heterogeneity for Autosomal Recessive Pyridoxine-Dependent Seizures. Neurogenetics 2005;6:143-149.

Pearl PL, Capp PK, Novotny EJ, Gibson KM. Inherited disorders of neurotransmitters in children and adults. Clin Biochem. 2005;38:1051-8.

McNally KA, Paige AL, Varghese G, Zhang H, Novotny EJ Jr, Spencer SS, Zubal IG, Blumenfeld H. Localizing value of ictal-interictal SPECT analyzed by SPM (ISAS). Epilepsia. 2005;46:1450-64.

Safriel Y, Pol-Rodriguez M, Novotny EJ, Rothman DL, Fulbright RK. Reference values for long echo time MR spectroscopy in healthy adults. AJNR Am J Neuroradiol. 2005;26:1439-45.

2006

Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG; International JSRD Study Group. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol. 2006;59:527-34.

Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet. 2006;43:334-9.

Saneto, RP, Bouldin, A. A boy with muscle weakness, hypercarbia, and the mitochondrial DNA A3243G mutation. J Child Neurol 2006;21:77-79.

Everett, LL, Van Rooyen, IF, Warner, MH, Shurtleff, HA, Saneto, RP, Ojemann, JG. Use of dexmedetomidine in awake craniotomy in adolescents: report of two cases. Pediatric Anesthesia 2006;16:338-342.

Gospe SM. Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment, Current Opinion in Neurology 2006;19:148-153.

Saneto RP, Sotero de Menezes MA, Ojemann JG, Bournival BD, Murphy PJ, Cook WB, Avellino AM, Ellenbogen RG. Vagus nerve stimulation for intractable seizures in children. Pediatr Neurol. 2006;35:323-6.

Barry PA, Lockridge KM, Salamat S, Tinling SP, Yue Y, Zhou SS, Gospe SM, Britt WJ, Tarantal AF. Nonhuman primate models of intrauterine cytomegalovirus infection. ILAR J. 2006;47:49-64.

2007

Barkovich AJ, Millen KJ, Dobyns WB. A developmental classification of malformations of the brainstem. Ann Neurol. 2007;62:625-39.

Arthur TM, Saneto RP, Sotero de Menezes MA, Devinsky O, Lajoie J, Murphy PJ, Cook WB, Ojemann JG. Vagus nerve stimulation in children with mitochondrial electron transport chain deficiencies. Mitochondrion. 2007;7:279-283.

Smyth MD, Limbrick DD Jr, Ojemann JG, Zempel J, Robinson S, O'Brien DF, Saneto RP, Goyal M, Appleton RE, Mangano FT, Park TS. Outcome following surgery for temporal lobe epilepsy with hippocampal involvement in preadolescent children: emphasis on mesial temporal sclerosis. J Neurosurg. 2007;106(3 Suppl):205-10.

Bouldin AA, Parisi MA, Laing N, Patterson K, Gospe SM. Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. Muscle Nerve. 2007;35:254-8.

Pearl PL, Gospe SM.  Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy.  J Inherit Metab Dis 2007;30:2-4.

Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Cohen BH. Mitochondrial disease: a practical approach for primary care physicians. Pediatrics 2007;120:1326-33.

Miyagawa T, Sotero M, Avellino AM, Kuratani J, Saneto RP, Ellenbogen RG, Ojemann JG.  Apnea caused by mesial temporal lobe mass lesions in infants: report of 3 cases. J Child Neurol. 2007;22:1079-83.

Saneto RP, Sotero de Menezes M.  Persistence of suppression-bursts in a patient with Ohtahara syndrome. J Child Neurol. 2007;22:631-4.

Juul SE, Aylward E, Richards T, McPherson RJ, Kuratani J, Burbacher TM. Prenatal cord clamping in newborn Macaca nemestrina: a model of perinatal asphyxia. Dev Neurosci. 2007;29:311-20.

Dion MH, Novotny EJ Jr, Carmant L, Cossette P, Nguyen DK. Lamotrigine therapy of epilepsy with Angelman's syndrome. Epilepsia. 2007;48:593-6.

Shetty-Alva N, Novotny EJ, Shetty T, Kuo PH. Positron emission tomography in Rasmussen's encephalitis. Pediatr Neurol. 2007;36:112-4.

2008

Guerrini R, Dobyns WB, Barkovich AJ. Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci. 2008;31:154-62.

Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A. 2008;146A:1637-54.

Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR,Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert Syndrome Related Disorders Study Group, Valente EM, Woods CG, Gleeson JG. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet. 2008;83:170-9.

Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008;40:1065-7.

Bamford NS, Zhang H, Joyce JA, Scarlis CA, Hanan W, Wu NP, André VM, Cohen R, Cepeda C, Levine MS, Harleton E, Sulzer D.  Repeated exposure to methamphetamine causes long-lasting presynaptic corticostriatal depression that is renormalized with drug readministration. Neuron. 2008;58:89-103.

Holmes MD, Brown M, Tucker DM, Saneto RP, Miller KJ, Wig GS, Ojemann JG. Localization of extratemporal seizure with noninvasive dense-array EEG. Comparison with intracranial recordings. Pediatr Neurosurg. 2008;44:474-9.

Saneto RP, Friedman SD, Shaw DW. Neuroimaging of mitochondrial disease. Mitochondrion. 2008;8:396-413.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008;29:E150-E172.

Mitochondrial Medicine Society's Committee on Diagnosis, Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab. 2008;94:16-37.

Blume HK, Li CI, Loch CM, Koepsell TD. Intrapartum fever and chorioamnionitis as risks for encephalopathy in term newborns: a case-control study. Dev Med Child Neurol. 2008;50:19-24.

Spencer SS, Goncharova II, Duckrow RB, Novotny EJ, Zaveri HP. Interictal spikes on intracranial recording: behavior, physiology, and implications. Epilepsia. 2008;49:1881-92.

Durazzo TS, Spencer SS, Duckrow RB, Novotny EJ, Spencer DD, Zaveri HP. Temporal distributions of seizure occurrence from various epileptogenic regions. Neurology. 2008;70:1265-71.

Buch K, Blumenfeld H, Spencer S, Novotny E, Zubal IG. Evaluating the accuracy of perfusion/metabolism (SPET/PET) ratio in seizure localization. Eur J Nucl Med Mol Imaging. 2008;35:579-88.

Bernard TJ, Goldenberg NA, Armstrong-Wells J, Amlie-Lefond C, Fullerton HJ. Treatment of childhood arterial ischemic stroke. Ann Neurol. 2008;63:679-96.

Whelan HT, Cook JD, Amlie-Lefond CM, Hovinga CA, Chan AK, Ichord RN, Deveber GA, Thall PF. Practical model-based dose finding in early-phase clinical trials: optimizing tissue plasminogen activator dose for treatment of ischemic stroke in children. Stroke. 2008;39:2627-36.

Amlie-Lefond C, Sébire G, Fullerton HJ. Recent developments in childhood arterial ischaemic stroke. Lancet Neurol. 2008;7:425-35.

Amlie-Lefond CM, Basir MA, Franciosi RA. Fatal neonatal stroke from a prenatal cardiac thrombus. Pediatr Neurol. 2008;38:140-2.

Riou EM, Amlie-Lefond C, Echenne B, Farmer M, Sébire G. Cerebrospinal fluid analysis in the diagnosis and treatment of arterial ischemic stroke. Pediatr Neurol. 2008;38:1-9.

2009

Barkovich AJ, Millen KJ, Dobyns WB. A developmental and genetic classification for midbrain-hindbrain malformations. Brain. 2009;132:3199-230.

Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL. Copy number and sequence variants implicate APBA2 as an autism candidate gene. Autism Res. 2009;2:359-64.

Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr. Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Epilepsia. 2009;50:1167-75.

Gospe SM Jr, Joyce JA, Siebert JR, Jack RM, Pinkerton KE. Exposure to environmental tobacco smoke during pregnancy in rats yields less effect on indices of brain cell number and size than does postnatal exposure. Reprod Toxicol. 2009;27:22-7.

Basura GJ, Hagland SP, Wiltse AM, Gospe SM Jr. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. Eur J Pediatr. 2009;168:697-704.

Bamford NS, White KK, Robinett SA, Otto RK, Gospe SM Jr. Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A. Dev Med Child Neurol. 2009;51:408-11.

Joshi PR, Wu NP, André VM, Cummings DM, Cepeda C, Joyce JA, Carroll JB, Leavitt BR, Hayden MR, Levine MS, Bamford NS. Age-dependent alterations of corticostriatal activity in the YAC128 mouse model of Huntington disease. J Neurosci. 2009;29:2414-27.

Saneto RP, Anderson GD. Onset of action and seizure control in Lennox-Gaustaut syndrome: focus on rufinamide. Ther Clin Risk Manag. 2009;5:271-80.

Blume HK, Garrison MM, Christakis DA. Neonatal seizures: treatment and treatment variability in 31 United States pediatric hospitals. J Child Neurol. 2009;24:148-54.

Pearl PL, Vezina LG, Saneto RP, McCarter R, Molloy-Wells E, Heffron A, Trzcinski S, McClintock WM, Conry JA, Elling NJ, Goodkin HP, de Menezes MS, Ferri R, Gilles E, Kadom N, Gaillard WD. Cerebral MRI abnormalities associated with vigabatrin therapy. Epilepsia. 2009;50:184-94.

Strug LJ, Clarke T, Chiang T, Chien M, Baskurt Z, Li W, Dorfman R, Bali B, Wirrell E, Kugler SL, Mandelbaum DE, Wolf SM, McGoldrick P, Hardison H, Novotny EJ, Ju J, Greenberg DA, Russo JJ, Pal DK. Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur J Hum Genet. 2009;17:1171-81.

Zaveri HP, Pincus SM, Goncharova II, Novotny EJ, Duckrow RB, Spencer DD, Spencer SS. A decrease in EEG energy accompanies anti-epileptic drug taper during intracranial monitoring. Epilepsy Res. 2009;86:153-62.

Sadilkova K, Gospe SM Jr, Hahn SH. Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures. J Neurosci Methods. 2009;184:136-41.

Goncharova II, Zaveri HP, Duckrow RB, Novotny EJ, Spencer SS. Spatial distribution of intracranially recorded spikes in medial and lateral temporal epilepsies. Epilepsia. 2009;50:2575-85.

Ashwal S, Michelson D, Plawner L, Dobyns WB; Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2009;73:887-97.

Amlie-Lefond C, Jubelt B. Neurologic manifestations of varicella zoster virus infections. Curr Neurol Neurosci Rep. 2009;9:430-4.

Amlie-Lefond C, deVeber G, Chan AK, Benedict S, Bernard T, Carpenter J, Dowling MM, Fullerton H, Hovinga C, Kirton A, Lo W, Zamel K, Ichord R; International Pediatric Stroke Study. Use of alteplase in childhood arterial ischaemic stroke: a multicentre, observational, cohort study. Lancet Neurol. 2009;8:530-6.

Amlie-Lefond C, Fullerton HJ. Thrombolytics for hyperacute stroke in children. Pediatr Hematol Oncol. 2009;26:103-7.

Amlie-Lefond C, Bernard TJ, Sébire G, Friedman NR, Heyer GL, Lerner NB, DeVeber G, Fullerton HJ; International Pediatric Stroke Study Group. Predictors of cerebral arteriopathy in children with arterial ischemic stroke: results of the International Pediatric Stroke Study. Circulation. 2009;119:1417-23.

Steinman KJ, Gorno-Tempini ML, Glidden DV, Kramer JH, Miller SP, Barkovich AJ, Ferriero DM. Neonatal watershed brain injury on magnetic resonance imaging correlates with verbal IQ at 4 years. Pediatrics. 2009 Mar;123(3):1025-30.

Steinman KJ, Ross J, Lai S, Reiss A, Hoeft F. Structural and functional neuroimaging in Klinefelter (47,XXY) syndrome: a review of the literature and preliminary results from a functional magnetic resonance imaging study of language. Dev Disabil Res Rev. 2009;15(4):295-308.

2010

Zaveri HP, Pincus SM, Goncharova II, Novotny EJ, Duckrow RB, Spencer DD, Blumenfeld H, Spencer SS. Background intracranial EEG spectral changes with anti-epileptic drug taper. Clin Neurophysiol. 2010;121:311-317.

Gospe, SM Jr. Neonatal vitamin-responsive epileptic encephalopathies. Chang Gung Med J. 2010;33:1-12.

Bai X, Vestal M, Berman R, Negishi M, Spann M, Vega C, Desalvo M, Novotny EJ, Constable RT, Blumenfeld H. Dynamic time course of typical childhood absence seizures: EEG, behavior, and functional magnetic resonance imaging. J Neurosci. 2010;30:5884-93.

Glauser TA, Cnaan A, Shinnar S, Hirtz DG, Dlugos D, Masur D, Clark PO, Capparelli EV, Adamson PC; Childhood Absence Epilepsy Study Group (Novotny and Saneto). Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. N Engl J Med. 2010;362:790-9.

Novotny E, Renfroe B, Yardi N, Nordli D, Ness S, Wang S, Weber T, Kurland CL, Yuen E, Eerdekens M, Venkatraman L, Nye JS, Ford L. Randomized trial of adjunctive topiramate therapy in infants with refractory partial seizures. Neurology. 2010;74:714-20.

Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet. 2010;47:8-21.

Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WB. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J Med Genet. 2010;47:81-90.

Dobyns WB. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia. 2010;51 Suppl 1:5-9.

Saneto RP, Lee IC, Koenig MK, Bao X, Weng SW, Naviaux RK, Wong LJ. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure. 2010;19:140-6.

Shurtleff H, Warner M, Poliakov A, Bournival B, Shaw DW, Ishak G, Yang T, Karandikar M, Saneto RP, Browd SR, Ojemann JG. Functional magnetic resonance imaging for presurgical evaluation of very young pediatric patients with epilepsy. J Neurosurg Pediatr. 2010;5:500-6.

Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB. Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain. 2010;133:1415-27.

Weiss MD, Saneto RP. Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. Muscle Nerve. 2010;41:882-5.

Gospe SM Jr. Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics. Dev Med Child Neurol. 2010;52:602-3.

Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder. Cell. 2010;142:203-217.

Martin ET, Kerin T, Christakis DA, Blume HK, Gospe SM Jr, Vinje J, Bowen MD, Gentsch J, Zerr DM. Redefining outcome of first seizures by acute illness. Pediatrics. 2010;126:e1477-84.

Berman R, Negishi M, Vestal M, Spann M, Chung MH, Bai X, Purcaro M, Motelow JE, Danielson N, Dix-Cooper L, Enev M, Novotny EJ, Constable RT, Blumenfeld H. Simultaneous EEG, fMRI, and behavior in typical childhood absence seizures. Epilepsia. 2010;51:2011-22.

Saneto RP, Singh KK. Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C. Mitochondrion. 2010;10:567-72.

Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM Jr, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord. 2010;20:499-504.

Saneto RP, Naviaux RK. Polymerase gamma disease through the ages. Dev Disabil Res Rev. 2010;16:163-74.

Friedman SD, Shaw DW, Ishak G, Gropman AL, Saneto RP. The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev. 2010;16:129-35.

Amlie-Lefond C, Gill JC. Pharmacology in childhood arterial ischemic stroke. Semin Pediatr Neurol. 2010;17:237-44.

Lopez-Vicente M, Ortega-Gutierrez S, Amlie-Lefond C, Torbey MT. Diagnosis and management of pediatric arterial ischemic stroke. J Stroke Cerebrovasc Dis. 2010;19:175-83.

Amlie-Lefond C, Fullerton HJ. Rashes, sniffles, and stroke: a role for infection in ischemic stroke of childhood. Infect Disord Drug Targets. 2010;10:67-75.

Steinman KJ, Mostofsky SH, Denckla MB. Toward a narrower, more pragmatic view of developmental dyspraxia. J Child Neurol. 2010 Jan;25(1):71-81.

2011

Killory BD, Bai X, Negishi M, Vega C, Spann MN, Vestal M, Guo J, Berman R, Danielson N, Trejo J, Shisler D, Novotny EJ Jr, Constable RT, Blumenfeld H. Impaired attention and network connectivity in childhood absence epilepsy. Neuroimage. 2011;56:2209-17.

Bai X, Guo J, Killory B, Vestal M, Berman R, Negishi M, Danielson N, Novotny EJ, Constable RT, Blumenfeld H. Resting functional connectivity between the hemispheres in childhood absence epilepsy. Neurology. 2011;76:1960-7.

Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011;48:396-406.

Judkins AR, Martinez D, Ferreira P, Dobyns WB, Golden JA. Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization. J Neuropathol Exp Neurol. 2011;70:438-43.

Segal EB, Grinspan ZM, Mandel AM, Gospe SM Jr. Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy. Pediatr Neurol. 2011;44:289-91.

Amlie-Lefond C, Zaidat OO, Lew SM. Moyamoya disease in early infancy: case report and literature review. Pediatr Neurol. 2011;44:299-302.

Ichord RN, Bastian R, Abraham L, Askalan R, Benedict S, Bernard TJ, Beslow L, Deveber G, Dowling M, Friedman N, Fullerton H, Jordan L, Kan L, Kirton A, Amlie-Lefond C, Licht D, Lo W, McClure C, Pavlakis S, Smith SE, Tan M, Kasner S, Jawad AF. Interrater reliability of the Pediatric National Institutes of Health Stroke Scale (PedNIHSS) in a multicenter study. Stroke. 2011;42:613-7.

Parker JG, Wanat MJ, Soden ME, Ahmad K, Zweifel LS, Bamford NS, Palmiter RD. Attenuating GABA(A) receptor signaling in dopamine neurons selectively enhances reward learning and alters risk preference in mice. J Neurosci. 2011 Nov 23;31(47):17103-12.

Beutler LR, Wanat MJ, Quintana A, Sanz E, Bamford NS, Zweifel LS, Palmiter RD. Balanced NMDA receptor activity in dopamine D1 receptor (D1R)- and D2R-expressing medium spiny neurons is required for amphetamine sensitization. Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4206-11.

Wray CD, Kraemer DL, Yang T, Poliachik SL, Ko AL, Poliakov A, Hebb AO, Novotny EJ, Ojemann JG. Freehand placement of depth electrodes using electromagnetic frameless stereotactic guidance. J Neurosurg Pediatr. 2011 Nov;8(5):464-7.

Negishi M, Martuzzi R, Novotny EJ, Spencer DD, Constable RT. Functional MRI connectivity as a predictor of the surgical outcome of epilepsy. Epilepsia. 2011 Sep;52(9):1733-40.

Tao H, Manak JR, Sowers L, Mei X, Kiyonari H, Abe T, Dahdaleh NS, Yang T, Wu S, Chen S, Fox MH, Gurnett C, Montine T, Bird T, Shaffer LG, Rosenfeld JA, McConnell J, Madan-Khetarpal S, Berry-Kravis E, Griesbach H, Saneto RP, Scott MP, Antic D, Reed J, Boland R, Ehaideb SN, El-Shanti H, Mahajan VB, Ferguson PJ, Axelrod JD, Lehesjoki AE, Fritzsch B, Slusarski DC, Wemmie J, Ueno N, Bassuk AG. Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet. 2011 Feb 11;88(2):138-49.

Thall PF, Szabo A, Nguyen HQ, Amlie-Lefond CM, Zaidat OO. Optimizing the concentration and bolus of a drug delivered by continuous infusion. Biometrics. 2011 Dec;67(4):1638-46.

Blume HK, Lucas S, Bell KR. Subacute concussion-related symptoms in youth. Phys Med Rehabil Clin N Am. 2011 Nov;22(4):665-81

Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Pyridoxine dependent epilepsy and Antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60.

Kirton A, Armstrong-Wells J, Chang T, Deveber G, Rivkin MJ, Hernandez M, Carpenter J, Yager JY, Lynch JK, Ferriero DM; International Pediatric Stroke Study Investigators (Amlie-Lefond, CM). Symptomatic neonatal arterial ischemic stroke: the International Pediatric Stroke Study. Pediatrics. 2011 Dec;128(6):e1402-10.

Paciorkowski AR, Thio LL, Dobyns WB. Genetic and biologic classification of infantile spasms. Pediatr Neurol. 2011 Dec;45(6):355-67.

2012

Ojemann JG, Hersonskey TY, Abeshaus S, Geyer JR, Saneto RP, Novotny EJ, Kollros P, Leary S, Holmes MD. Epilepsy surgery after treatment of pediatric malignant brain tumors. Seizure. 2012 Oct;21(8):624-30.

Strug LJ, Addis L, Chiang T, Baskurt Z, Li W, Clarke T, Hardison H, Kugler SL, Mandelbaum DE, Novotny EJ, Wolf SM, Pal DK. The genetics of reading disability in an often excluded sample: novel Loci suggested for reading disability in rolandic epilepsy. PLoS One. 2012;7(7):e40696.

Wray CD, Blakely TM, Poliachik SL, Poliakov A, McDaniel SS, Novotny EJ, Miller KJ, Ojemann JG. Multimodality localization of the sensorimotor cortex in pediatric patients undergoing epilepsy surgery. J Neurosurg Pediatr. 2012 Jul;10(1):1-6.

Wray CD, McDaniel SS, Saneto RP, Novotny EJ Jr, Ojemann JG. Is postresective intraoperative electrocorticography predictive of seizure outcomes in children? J Neurosurg Pediatr. 2012 May;9(5):546-51.

Carr RB, Khanna PC, Saneto RP. Childhood subdural hemorrhage, macrocephaly, and coagulopathy associated with Prader-Willi syndrome: case report and review of the literature. Pediatr Neurol. 2012 Jul;47(1):59-61.

Cohen BH, Saneto RP. Mitochondrial translational inhibitors in the pharmacopeia. Biochim Biophys Acta. 2012 Sep-Oct;1819(9-10):1067-74.

Anderson GD, Saneto RP. Current oral and non-oral routes of antiepileptic drug delivery. Adv Drug Deliv Rev. 2012 Jul;64(10):911-8.

Golden AS, Law YM, Shurtleff H, Warner M, Saneto RP. Mitochondrial electron transport chain deficiency, cardiomyopathy, and long-term cardiac transplant outcome. Pediatr Transplant. 2012 May;16(3):265-8.

Craig AK, de Menezes MS, Saneto RP. Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects. Seizure. 2012 Jan;21(1):17-20.

Blume HK, Vavilala MS, Jaffe KM, Koepsell TD, Wang J, Temkin N, Durbin D, Dorsch A, Rivara FP. Headache after pediatric traumatic brain injury: a cohort study. Pediatrics. 2012 Jan;129(1):e31-9.

Gospe SM Jr. Natural history of pyridoxine-dependent epilepsy: tools for prognostication. Dev Med Child Neurol. 2012 Sep;54(9):781-2.

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. 2012 Mar 9;90(3):457-66.

Saver JL, Warach S, Janis S, Odenkirchen J, Becker K, Benavente O, Broderick J, Dromerick AW, Duncan P, Elkind MS, Johnston K, Kidwell CS, Meschia JF, Schwamm L; National Institute of Neurological Disorders and Stroke (NINDS) Stroke Common Data Element Working Group (Amlie-Lefond, CM). Standardizing the structure of stroke clinical and epidemiologic research data: the National Institute of Neurological Disorders and Stroke (NINDS) Stroke Common Data Element (CDE) project. Stroke. 2012 Apr;43(4):967-73.

Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I,Rue TC, Millen KJ, Dobyns WB, Doherty D. Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain. 2012 May;135(Pt5):1370-86.

Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24;44(8):934-40.

Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain. 2012 Aug;135(Pt 8):2416-27.

Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 2012 May;135(Pt 5):1348-69.

Simons Vip Consortium (Steinman, KJ). Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. Neuron. 2012 Mar 22;73(6):1063-7.

Wang W, Dever D, Lowe J, Storey GP, Bhansali A, Eck EK, Nitulescu I, Weimer J, Bamford NS. Regulation of prefrontal excitatory neurotransmission by dopamine in the nucleus accumbens core. J Physiol. 2012 Aug 15;590(Pt 16):3743-69.

Quintana A, Sanz E, Wang W, Storey GP, Güler AD, Wanat MJ, Roller BA, La Torre A, Amieux PS, McKnight GS, Bamford NS, Palmiter RD. Lack of GPR88 enhances medium spiny neuron activity and alters motor- and cue-dependent behaviors. Nat Neurosci. 2012 Nov;15(11):1547-55.

Hunyady AI, Anderson CT, Kuratani JD, Kundu A. Fever following an Epidural Blood Patch in a Child. Case Rep Anesthesiol. 2012;2012:753875.

Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium (Steinman KJ); 16p11.2 European Consortium. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct;49(10):660-8.

Blume HK. Pediatric headache: a review. Pediatr Rev. 2012 Dec;33(12):562-76.

Blume HK, Brockman LN, Breuner CC. Biofeedback therapy for pediatric headache: factors associated with response. Headache. 2012 Oct;52(9):1377-86.

Blume HK. Children with minor blunt head trauma, a Glasgow Coma Scale score of 14 or 15 and a normal CT scan are at very low risk of traumatic findings on subsequent neuroimaging or of requiring neurosurgical intervention. Evid Based Med. 2012 Dec;17(6):e11.

Zaidat OO, Liebeskind DS, Edgell RC, Amlie-Lefond CM, Kalia JS, Alexandrov AV. Clinical trial design for endovascular ischemic stroke intervention. Neurology. 2012 Sep 25;79(13 Suppl 1):S221-33.

Ellis MJ, Amlie-Lefond C, Orbach DB. Endovascular therapy in children with acute ischemic stroke: review and recommendations. Neurology. 2012 Sep 25;79(13 Suppl 1):S158-64.

Mefford HC, Cook J, Gospe SM Jr. Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. Am J Med Genet A. 2012 Dec;158A(12):3190-5.

van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab. 2012 Nov;107(3):335-44.

Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24;44(8):934-40.

Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain. 2012 Aug;135(Pt 8):2416-27.

Cloud LJ, Rosenblatt A, Margolis RL, Ross CA, Pillai JA, Corey-Bloom J, Tully HM, Bird T, Panegyres PK, Nichter CA, Higgins DS Jr, Helmers SL, Factor SA, Jones R, Testa CM. Seizures in juvenile Huntington's disease: frequency and characterization in a multicenter cohort. Mov Disord. 2012 Dec;27(14):1797-800.

Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 2012 Oct;158A(10):2393-406.

2013

Wang W, Darvas M, Storey GP, Bamford IJ, Gibbs JT, Palmiter RD, Bamford NS. Acetylcholine encodes long-lasting presynaptic plasticity at glutamatergic synapses in the dorsal striatum after repeated amphetamine exposure. J Neurosci. 2013 Jun 19;33(25):10405-26.

Wang W, Nitulescu I, Lewis JS, Lemos JC, Bamford IJ, Posielski NM, Storey GP, Phillips PE, Bamford NS. Overinhibition of corticostriatal activity following prenatal cocaine exposure. Ann Neurol. 2013 Mar;73(3):355-69.

Poliachik SL, Poliakov AV, Jansen LA, McDaniel SS, Wray CD, Kuratani J, Saneto RP, Ojemann JG, Novotny EJ Jr. Tissue localization during resective epilepsy surgery. Neurosurg Focus. 2013 Jun;34(6):E8.

Friedman SD, Baker LD, Borson S, Jensen JE, Barsness SM, Craft S, Merriam GR, Otto RK, Novotny EJ, Vitiello MV. Growth Hormone-Releasing Hormone Effects on Brain γ-Aminobutyric Acid Levels in Mild Cognitive Impairment and Healthy Aging. JAMA Neurol. 2013 Jul 1;70(7):883-90.

Weaver KE, Chaovalitwongse WA, Novotny EJ, Poliakov A, Grabowski TG, Ojemann JG. Local functional connectivity as a pre-surgical tool for seizure focus identification in non-lesion, focal epilepsy. Front Neurol. 2013 May 1;4:43.

Stumpf JD, Saneto RP, Copeland WC. Clinical and molecular features of POLG-related mitochondrial disease. Cold Spring Harb Perspect Biol. 2013 Apr 1;5(4):a011395.

Saneto RP, Cohen BH, Copeland WC, Naviaux RK. Alpers-huttenlocher syndrome. Pediatr Neurol. 2013 Mar;48(3):167-78.

Saneto RP, Sedensky MM. Mitochondrial disease in childhood: mtDNA encoded. Neurotherapeutics. 2013 Apr;10(2):199-211.

Hershey AD, Powers SW, Coffey CS, Eklund DD, Chamberlin LA, Korbee LL; CHAMP Study Group (Blume HK). Childhood and Adolescent Migraine Prevention (CHAMP) study: a double-blinded, placebo-controlled, comparative effectiveness study of amitriptyline, topiramate, and placebo in the prevention of childhood and adolescent migraine. Headache. 2013 May;53(5):799-816.

Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Am J Med Genet A. 2013 Jul;161(7):1523-30.

Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, Cohen JS, Fatemi A, Dobyns WB, Shaffer LG, Ballif BC, Marsh ED. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013 May;14(2):99-111.

Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain. 2013 Feb;136(Pt 2):536-48.

Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Am J Med Genet A. 2013 Jan;161A(1):131-6.

Glauser TA, Cnaan A, Shinnar S, Hirtz DG, Dlugos D, Masur D, Clark PO, Adamson PC; Childhood Absence Epilepsy Study Team (Saneto RP). Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy: initial monotherapy outcomes at 12 months. Epilepsia. 2013 Jan;54(1):141-55.