Article
Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.
Epilepsy research - 1 Oct 2006
Ma Shaochun, Blair Marcia A, Abou-Khalil Bassel, Lagrange Andre H, Gurnett Christina A, Hedera Peter
Abstract excerpt
Juvenile myoclonic epilepsy (JME), accounting for approximately 25% of idiopathic generalized epilepsies, is genetically heterogeneous. Mutations in the alpha-1 subunit of the GABAA receptor (GABRA1) and EFHC1 genes have been reported in a few families with autosomal dominant (AD) JME. We have investigated the contribution of these two genes to familial JME in our cohort of 54 JME Caucasian families. Syndromic...
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