Concepedia

Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus

Louise A. Harkin, David N. Bowser, Leanne M. Dibbens, Rita Singh, Fiona Phillips, Robyn H. Wallace, M. Richards, David A. Williams, John C. Mulley, Samuel F. Berkovic,

The American Journal of Human Genetics · 2002 · 440 citations · 21 references

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21

Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy

Shikshya Shrestha, Steven M. Offer · Medical Epigenetics · 2016 · 9K citations · Full text

, , +17

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

Lieve Claes, Jurgen Del‐Favero, Berten Ceulemans et al. · The American Journal of Human Genetics · 2001 · 1.3K citations · Full text

, , +12

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B

Robyn H. Wallace, Dao Wen Wang, Rita Singh et al. · Nature Genetics · 1998 · 1K citations

, , +14

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Andrew Escayg, Bryan T. MacDonald, Miriam H. Meisler et al. · Nature Genetics · 2000 · 988 citations

, , +12

Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures

Robyn H. Wallace, Carla Marini, Steven Petrou et al. · Nature Genetics · 2001 · 782 citations

, , +16