NJA - Seizure: European Journal of Epilepsy

Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder

A.A. Mhannia, J.N. Hartleya, W.G. Sangerb, A.E. Chudleya, E.L. Spriggsa

Abstract

Mutations in the SCN1A gene can cause a variety of dominantly inherited epilepsy syndromes. Severe phenotypes usually result from loss of function mutations, whereas missense mutations cause a milder phenotype by altering the sodium channel activity. We report on a novel missense variant (p.Val1379Leu) in the SCN1A gene segregating in an autosomal dominant pattern in a family exhibiting a variable epilepsy phenotype ranging from generalized epilepsy with febrile seizures during infancy to a well controlled seizure disorder in adulthood. This report supports the importance of SCN1A mutation analysis in families in which seizure disorders segregate in an autosomal dominant fashion.

Keywords: SCN1A, GEFS+, Dominant

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