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

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

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)711-712
Number of pages2
JournalSeizure
Volume20
Issue number9
DOIs
StatePublished - Nov 1 2011

Fingerprint

Epilepsy
Mutation
Phenotype
Genes
Generalized Epilepsy
Febrile Seizures
Sodium Channels
Missense Mutation

Keywords

  • Dominant
  • GEFS+
  • SCN1A

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder. / Mhanni, A. A.; Hartley, J. N.; Sanger, Warren G; Chudley, A. E.; Spriggs, E. L.

In: Seizure, Vol. 20, No. 9, 01.11.2011, p. 711-712.

Research output: Contribution to journalArticle

Mhanni, A. A. ; Hartley, J. N. ; Sanger, Warren G ; Chudley, A. E. ; Spriggs, E. L. / Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder. In: Seizure. 2011 ; Vol. 20, No. 9. pp. 711-712.
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