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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 | 593 | 2007 |
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 | 514 | 2008 |
Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus RH Wallace, IE Scheffer, S Barnett, M Richards, L Dibbens, RR Desai, ... The American Journal of Human Genetics 68 (4), 859-865, 2001 | 495 | 2001 |
SCN1A mutations and epilepsy JC Mulley, IE Scheffer, S Petrou, LM Dibbens, SF Berkovic, LA Harkin Human mutation 25 (6), 535-542, 2005 | 470 | 2005 |
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies LM Dibbens, HJ Feng, MC Richards, LA Harkin, BL Hodgson, D Scott, ... Human molecular genetics 13 (13), 1315-1319, 2004 | 449 | 2004 |
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 | 435 | 2012 |
Mutations in DEPDC5 cause familial focal epilepsy with variable foci LM Dibbens, B De Vries, S Donatello, SE Heron, BL Hodgson, ... Nature genetics 45 (5), 546-551, 2013 | 410 | 2013 |
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations IE Scheffer, LA Harkin, BE Grinton, LM Dibbens, SJ Turner, MA Zielinski, ... Brain 130 (1), 100-109, 2007 | 353 | 2007 |
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 | 334 | 2015 |
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 | 326 | 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 | 319 | 2012 |
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis SF Berkovic, LM Dibbens, A Oshlack, JD Silver, M Katerelos, DF Vears, ... The American Journal of Human Genetics 82 (3), 673-684, 2008 | 311 | 2008 |
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine CJ Milligan, M Li, EV Gazina, SE Heron, U Nair, C Trager, CA Reid, ... Annals of neurology 75 (4), 581-590, 2014 | 289 | 2014 |
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations IE Scheffer, SE Heron, BM Regan, S Mandelstam, DE Crompton, ... Annals of neurology 75 (5), 782-787, 2014 | 274 | 2014 |
Familial and sporadic 15q13. 3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance LM Dibbens, S Mullen, I Helbig, HC Mefford, MA Bayly, S Bellows, C Leu, ... Human molecular genetics 18 (19), 3626-3631, 2009 | 265 | 2009 |
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 | 263 | 2016 |
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 | 243 | 2003 |
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy HO Tan, CA Reid, FN Single, PJ Davies, C Chiu, S Murphy, AL Clarke, ... Proceedings of the National Academy of Sciences 104 (44), 17536-17541, 2007 | 232 | 2007 |
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 | 230 | 2016 |