Article
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
Human mutation - 1 Apr 2006
Depienne Christel, Arzimanoglou Alexis, Trouillard Oriane, Fedirko Estelle, Baulac Stéphanie, Saint-Martin Cécile, Ruberg Merle, Dravet Charlotte, Nabbout Rima, Baulac Michel, Gourfinkel-An Isabelle, LeGuern Eric
Abstract excerpt
De novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage-gated sodium channel Nav1.1, are the most frequent genetic cause of Severe Myoclonic Epilepsy of Infancy known so far. A few mutations inherited from an asymptomatic or mildly affected parent have been reported, suggesting that expression of the mutated gene may be variable in the transmitting parent. In this study, we report...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.