[Progress in molecular genetics of generalized epilepsy with febrile seizures plus]

Beijing Da Xue Xue Bao Yi Xue Ban. 2008 Apr;40(2):229-33.
[Article in Chinese]

Abstract

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial inherited epileptic syndrome characterized by phenotypic heterogeneity from the milder febrile seizures to the severest epileptic encephalopathy such as severe myoclonic epilepsy in infancy (SMEI). GEFS+ is a disorder with a genetic heterogeneity. Molecular genetics have revealed that four genes are associated with the pathogenesis of GEFS+. These include mutations in genes encoding subunits of neuronal voltage-gated sodium channels (SCN1A, SCN1B, SCN2A) and gamma(2) subunit of the gamma amino-butyric acid (GABA)(A) receptor (GABRG2). These genes have been confirmed as having a role in autosomal dominant GEFS+ families. In addition, the phenotypes of the affected members may depend on the types and locations of these gene mutations. This review states the molecular genetic progress of GEFS+ in brief.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Epilepsy, Generalized / classification
  • Epilepsy, Generalized / complications
  • Epilepsy, Generalized / genetics*
  • Family Health
  • Fever / complications
  • Fever / genetics
  • Humans
  • Molecular Biology / trends*
  • NAV1.1 Voltage-Gated Sodium Channel
  • NAV1.2 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Seizures, Febrile / complications
  • Seizures, Febrile / genetics*
  • Sodium Channels / genetics*
  • Voltage-Gated Sodium Channel beta-1 Subunit

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • NAV1.2 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN1A protein, human
  • SCN1B protein, human
  • SCN2A protein, human
  • Sodium Channels
  • Voltage-Gated Sodium Channel beta-1 Subunit