Recent Publications in Epilepsy

 

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 Apr 28;30(17):5884-93.

Conti V, Marini C, Gana S, Sudi J, Dobyns WB, Guerrini R. Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. Am J Med Genet A 2011; 155: 892-7.

Glauser TA, Cnaan A, Shinnar S, Hirtz DG, Dlugos D, Masur D, Clark PO, Capparelli EV, Adamson PC; Childhood Absence Epilepsy Study Group. Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. N Engl J Med. 2010 Mar 4;362(9):790-9.

Khanna PC, Poliakov AV, Ishak GE, Poliachik SL, Friedman SD, Saneto RP, Novotny EJ Jr, Ojemann JG, Shaw DW. Preserved interhemispheric functional connectivity in a case of corpus callosum agenesis. Neuroradiology. 2011 May 8. PMID: 21553342

Koch H, Huh S, Elsen FP, Carroll MS, Hodge RD, Bedogni F, Turner M, Hevner R, Ramirez JM. (2010). Prostaglandin E2 induced synaptic plasticity in neocortical networks of organotypic slice cultures. J. Neuroscience, Sep 1; 30 (35): 11678-87. PMID: 20810888

Madisen L, Mao T, Koch H, Zhuo J, Berenyi A, Shigeyoshi F, Hsu YWA, Garcia III AJ, Gu X, Zanella S, Mao Y, Hooks BM, Boyden ES, Buzsaki G, Ramirez JM,  Jones AR, Svoboda K, Han X, Turner E, Zeng H (2012) Toolbox of Cre-dependent optogenetic transgenic mice for light-induced activation and silencing. Nature Neuroscience 15(5):793-802.

Marcuccilli CJ, Tryba AK, van Drongelen W, Koch H, Viemari JC, Peña-Ortega F, Doren EL, Pytel P, Chevalier M, Mrejeru A, Kohrman MH, Lasky RE, Lew SM, Frim DM, Ramirez JM. (2010). Neuronal Bursting Properties in Focal and Parafocal Regions in Pediatric Neocortical Epilepsy Stratified by Histology. J Clin Neurophysiol. Oct 29.

Marsh E, Fulp C, Gomez E, Minarcik J, Nasrallah I, Sudi J, Christian S, Mancini G, Labosky T, Brooks-Kayal A, Dobyns WB, Golden JA. Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain 2009;132(6):1563-1576.

Martell A, Dwyer J, Koch H, Zanella S, Kohrman M, Frim D, Ramirez JM, van Drongelen W. (2010). N-Methyl-d-Aspartate-Induced Oscillatory Properties in Neocortical Pyramidal Neurons From Patients With Epilepsy. J Clin Neurophysiol. Oct 29.

Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE. (2010) Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genetics 6:e1000962. PMCID: PMC2873910.

Mefford HC, Mulley JC (2010) Genetically complex epilepsies, copy number variants and syndrome constellations. Genome Medicine 2:71. PMCID: PMC2988446.

Mefford HC.  (2009)  Genotype to phenotype discovery and characterization of novel genomic disorders in a genotype-first era.  Genetics in Medicine 11:836-42.

Negishi M, Martuzzi R, Novotny EJ, Spencer DD, Constable RT.  Functional MRI connectivity as a predictor of the surgical outcome of epilepsy.  Epilepsia. 2011 Jul 29

Shrimpton A, Kessler JA, Shaffer LG, Stack C, Jalali A, Little R, Goldstein J, Angle B, Chary A, Coppinger J, Mathison DJ, Khan S, Poznanski AK, Dobyns WB, Craig DW, Hoo J, Sarco D, Bassuk AG. Variability of epilepsy, autism, brachydactyly, and other clinical features in familial and sporadic 2q37.3 deletion. J Pediatr Neurol 2009;7(3):279-283.

Trasande CA, Ramirez JM, (2007).  Activity deprivation leads to seizures in hippocampal slice cultures: is epilepsy the consequence of homeostatic plasticity? J Clin Neurophysiol. 2007 Apr;24(2):154-64.

Van Drongelen W, Koch H, Elsen FP, Lee HC, Mrejeru A, Dolen E, Marcuccilli CJ, Hereld M, Stevens RL, Ramirez JM. (2006). The role of persistent sodium current in bursting activity of mouse neocortical networks in vitro. J. Neurophysiol. Nov;96(5):2564-77..

Van Drongelen W, Koch, H, Marcuccilli C, Ramirez JM. (2003). Synchrony levels during evoked seizure-like bursts in mouse neocortical slices. Journal of Neurophysiology 90 (3): 1571-1580.

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.

Gospe, SM Jr., Natural history of pyridoxine-dependent epilepsy:  tools for prognostication.  Dev Med Child Neurol 54:781-782 (2012).

van Karnebeek, CDM,  Hartmann, H, Jaggumantri, S, Bok, L, Cheng, B,,Connolly, M, Coughlin, CR II, Das, AM, Gospe, SM Jr., Jakobs, C, van der Lee, J, 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 & future trials.  Mol Genet Metab 107:335-244 (2012).

Mefford, HC, Cook J, Gospe, SM Jr.  Epilepsy due to 20q12.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.  Am J Med Genet A 158A:3190-3195 (2012).

Catterall, W.A., Kalume, F., Oakley, J.C., 2010. NaV1.1 channels and epilepsy. The Journal of physiology 588, 1849-1859.

Cheah, C.S., Yu, F.H., Westenbroek, R.E., Kalume, F., Oakley, J.C., Rubenstein, J.L., Catterall, W.A., 2010. Conditional deletion of Nav1.1 channels in inhibitory interneurons is sufficient to cause the seizures and premature death in a mouse model of SMEI. SFN 255.16.

Cheah, C.S., Yu, F.H., Westenbroek, R.E., Kalume, F.K., Oakley, J.C., Potter, G.B., Rubenstein, J.L., Catterall, W.A., 2012. Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome. Proceedings of the National Academy of Sciences of the United States of America 109, 14646-14651.

Dutton, S.B., Sawyer, N.T., Kalume, F., Jumbo-Lucioni, P., Borges, K., Catterall, W.A., Escayg, A., 2011. Protective effect of the ketogenic diet in Scn1a mutant mice. Epilepsia 52, 2050-2056.

Kalume, F., Oakley, J.C., Westenbroek, R.E., Scheuer, T., Catterall, W.A., 2010. Sleep Impairment and Reduced Excitability of GABAergic Interneurons in the Reticular Nucleus of the Thalamus in a Mouse Model of Severe Myoclonic Epilepsy of Infancy. SFN 255.15, Q18.

Kalume, F., Westenbroek, R.E., Cheah, C.S., Yu, F.H., Oakley, J.C., Scheuer, T., Catterall, W.A., 2013. Sudden unexpected death in a mouse model of Dravet syndrome. The Journal of clinical investigation.

Kalume, F., Yu, F.H., Westenbroek, R.E., Scheuer, T., Catterall, W.A., 2007. Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy. The Journal of neuroscience : the official journal of the Society for Neuroscience 27, 11065-11074.

Oakley, J.C., Kalume, F., Catterall, W.A., 2011. Insights into pathophysiology and therapy from a mouse model of Dravet syndrome. Epilepsia 52 Suppl 2, 59-61.

Oakley, J.C., Kalume, F., Yu, F.H., Scheuer, T., Catterall, W.A., 2009. Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. Proceedings of the National Academy of Sciences of the United States of America 106, 3994-3999.

Yu, F.H., Mantegazza, M., Westenbroek, R.E., Robbins, C.A., Kalume, F., Burton, K.A., Spain, W.J., McKnight, G.S., Scheuer, T., Catterall, W.A., 2006. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nature neuroscience 9, 1142-1149.

Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia. 2013 Feb;54(2):256-64.

Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H. Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat. 2013 Feb;34(2):296-300.

Kirov A, Dimova P, Todorova A, Mefford H, Todorov T, Saraylieva G, Bojinova V, Mitev V, Helbig I. 15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria. Epilepsy Res. 2013 Jan 23.