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Article

Clinical spectrum of SCN1A mutations.

Epilepsia - 1 May 2009

Gambardella Antonio, Marini Carla

Abstract excerpt

Mutations in the NaV1.1 neuronal sodium channel alpha-subunit (SCN1A) gene have been documented in a spectrum of epilepsy syndromes, ranging from the relatively benign generalized epilepsy with febrile seizures plus (GEFS(+)) to severe myoclonic epilepsy in infancy (SMEI), and rare cases of familial migraine. More than 300 new mutations have been identified to date, with missense mutations being the most common...

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Identifiers

PMID: 19469841
DOI: 10.1111/j.1528-1167.2009.02115.x

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