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Article

Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

23 Sept 2003

Abstract excerpt

BACKGROUND: Mutations in SCN1A, the gene encoding the alpha1 subunit of the sodium channel, have been found in severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). Mutations in SMEI include missense, nonsense, and frameshift mutations more commonly arising de novo in affected patients. This finding is difficult to reconcile with the family history of GEFS+ in a...

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PMID: 14504318
DOI: 10.1212/01.wnl.0000086379.71183.78

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