Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

Ingrid E. Scheffer*, Yue-Hua Zhang, Floor E. Jansen, Leanne Dibbens

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

118 Citations (Scopus)

Abstract

Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) can both arise due 10 mutations of SCN1A. the gene encoding the alpha 1 pore-forming subunit of the sodium channel. GEFS+ refers to a familial epilepsy syndrome where at least two family members have phenotypes that fit within the GEFS+ spectrum. The GEFS+ spectrum comprises a range of mild to severe phenotypes varying from classical febrile seizures to Dravet syndrome. Dravet syndrome is a severe infantile onset epilepsy syndrome with multiple seizure types, developmental slowing and poor outcome. More than 70%,, of patients with Dravet syndrome have mutations of SCN1A these include both truncation and missense mutations. In contrast, only 10% of GEFS+ families have SCN1A mutations and these comprise missense mutations. GEFS+ has also been associated with mutations Of genes encoding the sodium channel beta I subunit. SCN1B. and the GABA(A) receptor gamma 2 subunit. GABRG2. The phenotypic heterogeneity that is characteristic of GEFS+ families is likely to be clue to modifier genes. Interpretation of the significance of a. SCN1A missense mutation requires a thorough understanding of the phenotypes in the GEFS+ spectrum whereas a de novo truncation mutation is likely to be associated with a severe phenotype. Early recognition of Dravet syndrome is important as aggressive control of seizures may improve developmental outcome. (C) 2009 Elsevier B.V. All rights reserved.

Original languageEnglish
Pages (from-to)394-400
Number of pages7
JournalBrain & Development
Volume31
Issue number5
DOIs
Publication statusPublished - May-2009
Event11th Annual Meeting of the Infantile-Seizure-Society/International Symposium on Febrile Seizures and Related Conditions - , Japan
Duration: 10-Apr-200811-Apr-2008

Keywords

  • Dravet syndrome
  • SMEI
  • GEFS
  • Febrile seizures
  • SCN1A
  • SCN1B
  • GABRG2
  • SEVERE MYOCLONIC EPILEPSY
  • REDUCED SODIUM CURRENT
  • TONIC-CLONIC SEIZURES
  • ALPHA-1 SUBUNIT GENE
  • DE-NOVO MUTATIONS
  • SCN1A MUTATIONS
  • MISSENSE MUTATIONS
  • ABSENCE EPILEPSY
  • INFANCY SMEI
  • CHANNEL

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