Article
A functional null mutation of SCN1B in a patient with Dravet syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 26 Aug 2009
Patino Gustavo A, Claes Lieve R F, Lopez-Santiago Luis F, Slat Emily A, Dondeti Raja S R, Chen Chunling, O'Malley Heather A, Gray Charles B B, Miyazaki Haruko, Nukina Nobuyuki, Oyama Fumitaka, De Jonghe Peter, Isom Lori L
Abstract excerpt
Dravet syndrome (also called severe myoclonic epilepsy of infancy) is one of the most severe forms of childhood epilepsy. Most patients have heterozygous mutations in SCN1A, encoding voltage-gated sodium channel Na(v)1.1 alpha subunits. Sodium channels are modulated by beta1 subunits, encoded by SCN1B, a gene also linked to epilepsy. Here we report the first patient with Dravet syndrome associated with a...
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