| KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy S Weckhuysen, S Mandelstam, A Suls, D Audenaert, T Deconinck, ... Annals of neurology 71 (1), 15-25, 2012 | 556 | 2012 |
| Sodium-channel defects in benign familial neonatal-infantile seizures SE Heron, KM Crossland, E Andermann, HA Phillips, AJ Hall, A Bleasel, ... The Lancet 360 (9336), 851-852, 2002 | 469 | 2002 |
| 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 | 413 | 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 | 386 | 2013 |
| CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy HA Phillips, I Favre, M Kirkpatrick, SM Zuberi, D Goudie, SE Heron, ... The American Journal of Human Genetics 68 (1), 225-231, 2001 | 386 | 2001 |
| Benign familial neonatal‐infantile seizures: characterization of a new sodium channelopathy SF Berkovic, SE Heron, L Giordano, C Marini, R Guerrini, RE Kaplan, ... Annals of neurology 55 (4), 550-557, 2004 | 369 | 2004 |
| 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 | 319 | 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 |
| 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 | 276 | 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 | 264 | 2014 |
| Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy NCK Tan, SE Heron, IE Scheffer, JT Pelekanos, JM McMahon, DF Vears, ... Neurology 63 (6), 1090-1092, 2004 | 253 | 2004 |
| Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants SE Heron, H Khosravani, D Varela, C Bladen, TC Williams, MR Newman, ... Annals of Neurology: Official Journal of the American Neurological …, 2007 | 251 | 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 | 215 | 2016 |
| A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation M Puskarjov, P Seja, SE Heron, TC Williams, F Ahmad, X Iona, KL Oliver, ... EMBO reports 15 (6), 723-729, 2014 | 195 | 2014 |
| Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation E Gardella, F Becker, RS Møller, J Schubert, JR Lemke, LHG Larsen, ... Annals of neurology 79 (3), 428-436, 2016 | 190 | 2016 |
| Channelopathies in idiopathic epilepsy SE Heron, IE Scheffer, SF Berkovic, LM Dibbens, JC Mulley Neurotherapeutics 4 (2), 295-304, 2007 | 178 | 2007 |
| Mutations in KCNT1 cause a spectrum of focal epilepsies RS Møller, SE Heron, LHG Larsen, CX Lim, MG Ricos, MA Bayly, ... Epilepsia 56 (9), e114-e120, 2015 | 160 | 2015 |
| Genetic variation of CACNA1H in idiopathic generalized epilepsy SE Heron, HA Phillips, JC Mulley, A Mazarib, MY Neufeld, SF Berkovic, ... Annals of neurology 55 (4), 595-596, 2004 | 153 | 2004 |
| 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 | 149 | 2015 |
| SCN2A mutations and benign familial neonatal‐infantile seizures: the phenotypic spectrum E Herlenius, SE Heron, BE Grinton, D Keay, IE Scheffer, JC Mulley, ... Epilepsia 48 (6), 1138-1142, 2007 | 141 | 2007 |
Leanne M DibbensUniversity of South Australia, Adelaide, Australia在 unisa.edu.au 的电子邮件经过验证
