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The spectrum of SCN1A-related infantile epileptic encephalopathies LA Harkin, JM McMahon, X Iona, L Dibbens, JT Pelekanos, SM Zuberi, ... Brain 130 (3), 843-852, 2007 | 592 | 2007 |
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... The American Journal of Human Genetics 101 (5), 664-685, 2017 | 448 | 2017 |
GRIN2A mutations cause epilepsy-aphasia spectrum disorders GL Carvill, BM Regan, SC Yendle, BJ O'Roak, N Lozovaya, N Bruneau, ... Nature genetics 45 (9), 1073-1076, 2013 | 442 | 2013 |
Febrile seizures LG Sadleir, IE Scheffer Bmj 334 (7588), 307-311, 2007 | 400 | 2007 |
ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE task force on nosology and definitions E Hirsch, J French, IE Scheffer, A Bogacz, T Alsaadi, MR Sperling, ... Epilepsia 63 (6), 1475-1499, 2022 | 347 | 2022 |
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ... The American Journal of Human Genetics 95 (4), 360-370, 2014 | 343 | 2014 |
GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome GL Carvill, S Weckhuysen, JM McMahon, C Hartmann, RS Møller, ... Neurology 82 (14), 1245-1253, 2014 | 323 | 2014 |
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome SE Heron, BE Grinton, S Kivity, Z Afawi, SM Zuberi, JN Hughes, ... The American Journal of Human Genetics 90 (1), 152-160, 2012 | 320 | 2012 |
Mortality in Dravet syndrome MS Cooper, A Mcintosh, DE Crompton, JM McMahon, A Schneider, ... Epilepsy research 128, 43-47, 2016 | 318 | 2016 |
Rare copy number variants are an important cause of epileptic encephalopathies HC Mefford, SC Yendle, C Hsu, J Cook, E Geraghty, JM McMahon, ... Annals of neurology 70 (6), 974-985, 2011 | 307 | 2011 |
De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies CT Myers, JM McMahon, AL Schneider, S Petrovski, AS Allen, GL Carvill, ... The American Journal of Human Genetics 99 (2), 287-298, 2016 | 277 | 2016 |
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Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy RD Bagnall, DE Crompton, S Petrovski, L Lam, C Cutmore, SI Garry, ... Annals of neurology 79 (4), 522-534, 2016 | 264 | 2016 |
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ... Journal of medical genetics 54 (7), 460-470, 2017 | 255 | 2017 |
Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms RH Wallace, BL Hodgson, BE Grinton, RM Gardiner, R Robinson, ... Neurology 61 (6), 765-769, 2003 | 241 | 2003 |
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy MG Ricos, BL Hodgson, T Pippucci, A Saidin, YS Ong, SE Heron, ... Annals of neurology 79 (1), 120-131, 2016 | 229 | 2016 |
Electroclinical features of absence seizures in childhood absence epilepsy LG Sadleir, K Farrell, S Smith, MB Connolly, IE Scheffer Neurology 67 (3), 413-418, 2006 | 217 | 2006 |
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study AS Allen, ST Bellows, SF Berkovic, J Bridgers, R Burgess, G Cavalleri, ... The Lancet Neurology 16 (2), 135-143, 2017 | 188 | 2017 |
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults FE Jansen, LG Sadleir, LA Harkin, L Vadlamudi, JM McMahon, JC Mulley, ... Neurology 67 (12), 2224-2226, 2006 | 175 | 2006 |