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
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
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
SCN1A mutations and epilepsy
JC Mulley, IE Scheffer, S Petrou, LM Dibbens, SF Berkovic, LA Harkin
Human mutation 25 (6), 535-542, 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
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
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
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
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
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, 2013
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
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
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
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
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
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
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
IE Scheffer, YH Zhang, FE Jansen, L Dibbens
Brain and Development 31 (5), 394-400, 2009
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
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
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
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