Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+

Acta Neurol Scand. 2008 Apr;117(4):289-92. doi: 10.1111/j.1600-0404.2007.00941.x. Epub 2007 Oct 10.

Abstract

Background: Mutations in the three genes SCN1A, SCN1B and GABRG2, all encoding subunits of ion channels, have been known to cause generalized epilepsy with febrile seizures plus (GEFS+) in families of different origin.

Objective: To study the occurrence of mutations in these genes in families with GEFS+ or a GEFS+ resembling phenotype of Scandinavian origin.

Material and methods: We performed linkage analysis in 19 Scandinavian families with a history of febrile seizures (FS) and epilepsy or GEFS+. Where linkage could not be excluded, the genes of interest were sequenced.

Results: We identified only one mutation in SCN1A, which seems to be a rare variant with no functional consequence.

Conclusion: This suggests that mutations in these three genes are not a prevalent cause of familial cases of FS and epilepsy or GEFS+ in Scandinavia.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • Chromosome Disorders / genetics
  • Chromosome Mapping
  • DNA Mutational Analysis
  • Denmark
  • Epilepsy, Generalized / genetics*
  • Epilepsy, Generalized / metabolism
  • Epilepsy, Generalized / physiopathology
  • Female
  • Gene Frequency / genetics
  • Genes, Dominant / genetics
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Inheritance Patterns / genetics
  • Ion Channels / genetics*
  • Male
  • Mutation / genetics*
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics
  • Norway
  • Protein Subunits / genetics
  • Receptors, GABA-A / genetics
  • Scandinavian and Nordic Countries
  • Seizures, Febrile / genetics*
  • Seizures, Febrile / metabolism
  • Seizures, Febrile / physiopathology
  • Sodium Channels / genetics
  • Voltage-Gated Sodium Channel beta-1 Subunit

Substances

  • GABRG2 protein, human
  • Genetic Markers
  • Ion Channels
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • Protein Subunits
  • Receptors, GABA-A
  • SCN1A protein, human
  • SCN1B protein, human
  • Sodium Channels
  • Voltage-Gated Sodium Channel beta-1 Subunit