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.
Original language | English (US) |
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Pages (from-to) | 711-712 |
Number of pages | 2 |
Journal | Seizure |
Volume | 20 |
Issue number | 9 |
DOIs | |
State | Published - Nov 2011 |
Keywords
- Dominant
- GEFS+
- SCN1A
ASJC Scopus subject areas
- Neurology
- Clinical Neurology