Details

Autor(en) / Beteiligte

• Mhanni, A.A
• Hartley, J.N
• Sanger, W.G
• Chudley, A.E
• Spriggs, E.L

Titel

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

Ist Teil von

• Seizure (London, England), 2011-11, Vol.20 (9), p.711-712

Ort / Verlag

England: Elsevier Ltd

Erscheinungsjahr

2011

Quelle

ScienceDirect

Beschreibungen/Notizen

• 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.