| Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 GL Carvill, SB Heavin, SC Yendle, JM McMahon, BJ O'Roak, J Cook, ... Nature genetics 45 (7), 825-830, 2013 | 703 | 2013 |
| X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment LM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ... Nature genetics 40 (6), 776-781, 2008 | 493 | 2008 |
| Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy SE Heron, KR Smith, M Bahlo, L Nobili, E Kahana, L Licchetta, KL Oliver, ... Nature genetics 44 (11), 1188-1190, 2012 | 404 | 2012 |
| Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 A Suls, P Dedeken, K Goffin, H Van Esch, P Dupont, D Cassiman, ... Brain 131 (7), 1831-1844, 2008 | 381 | 2008 |
| A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ... Nature genetics 47 (1), 39-46, 2015 | 315 | 2015 |
| 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 | 305 | 2012 |
| Blood–brain barrier disruption in post-traumatic epilepsy O Tomkins, I Shelef, I Kaizerman, A Eliushin, Z Afawi, A Misk, M Gidon, ... Journal of Neurology, Neurosurgery & Psychiatry 79 (7), 774-777, 2008 | 257 | 2008 |
| 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 | 246 | 2016 |
| A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome AG Bassuk, RH Wallace, A Buhr, AR Buller, Z Afawi, M Shimojo, S Miyata, ... The American Journal of Human Genetics 83 (5), 572-581, 2008 | 242 | 2008 |
| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 230 | 2019 |
| Epilepsy and mental retardation limited to females: an under-recognized disorder IE Scheffer, SJ Turner, LM Dibbens, MA Bayly, K Friend, B Hodgson, ... Brain 131 (4), 918-927, 2008 | 217 | 2008 |
| SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis C Marini, IE Scheffer, R Nabbout, D Mei, K Cox, LM Dibbens, ... Epilepsia 50 (7), 1670-1678, 2009 | 191 | 2009 |
| Glucose transporter 1 deficiency in the idiopathic generalized epilepsies T Arsov, SA Mullen, S Rogers, AM Phillips, KM Lawrence, JA Damiano, ... Annals of neurology 72 (5), 807-815, 2012 | 170 | 2012 |
| Genetic epilepsy with febrile seizures plus: Refining the spectrum YH Zhang, R Burgess, JP Malone, GC Glubb, KL Helbig, L Vadlamudi, ... Neurology 89 (12), 1210-1219, 2017 | 147 | 2017 |
| Familial neonatal seizures in 36 families: clinical and genetic features correlate with outcome BE Grinton, SE Heron, JT Pelekanos, SM Zuberi, S Kivity, Z Afawi, ... Epilepsia 56 (7), 1071-1080, 2015 | 147 | 2015 |
| A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24 MA Corbett, M Bahlo, L Jolly, Z Afawi, AE Gardner, KL Oliver, S Tan, ... The American Journal of Human Genetics 87 (3), 371-375, 2010 | 140 | 2010 |
| Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ... Nature communications 10 (1), 4920, 2019 | 122 | 2019 |
| TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli, P Verstreken, ... Neurology 87 (1), 77-85, 2016 | 119 | 2016 |
| Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia K Hardies, CGF De Kovel, S Weckhuysen, B Asselbergh, T Geuens, ... Brain 138 (11), 3238-3250, 2015 | 98 | 2015 |
| PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures IE Scheffer, BE Grinton, SE Heron, S Kivity, Z Afawi, X Iona, ... Neurology 79 (21), 2104-2108, 2012 | 97 | 2012 |
