Truncation of the GABA(A)-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus

Recent findings from studies of two families have shown that mutations in the GABA(A)-receptor γ2 subunit are associated with generalized epilepsies and febrile seizures. Here we describe a family that has generalized epilepsy with febrile seizures plus (GEFS(+)), including an individual with severe...

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Hlavní autoři: Harkin, Louise A., Bowser, David N., Dibbens, Leanne M., Singh, Rita, Phillips, Fiona, Wallace, Robyn H., Richards, Michaella C., Williams, David A., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E., Petrou, Steven
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2002
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC384926/
https://ncbi.nlm.nih.gov/pubmed/11748509
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