Article
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.
The Journal of biological chemistry - 7 Dec 2012
Thompson Christopher H, Porter J Christopher, Kahlig Kristopher M, Daniels Melissa A, George Alfred L
Abstract excerpt
Mutations in SCN1A, encoding the voltage-gated sodium channel Na(V)1.1, are the most common cause of severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome. SMEI is most often associated with premature truncations of Na(V)1.1 that cause loss of function, but nontruncating mutations also occur. We hypothesized that some nontruncating mutations might impair trafficking of Na(V)1.1 to the plasma membrane....
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