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Leanne M Dibbens
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Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus
LA Harkin, DN Bowser, LM Dibbens, R Singh, F Phillips, RH Wallace, ...
The American Journal of Human Genetics 70 (2), 530-536, 2002
5972002
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
5792007
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
4922008
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
4852001
SCN1A mutations and epilepsy
JC Mulley, IE Scheffer, S Petrou, LM Dibbens, SF Berkovic, LA Harkin
Human mutation 25 (6), 535-542, 2005
4542005
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
4352004
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
4032012
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
3792013
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
3472007
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
3122015
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
3122014
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
3052012
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
3022008
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
2702014
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
2602014
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
2582009
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
2452016
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
2412003
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
2242007
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
2172008
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