A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33

Hum Genet. 2008 Nov;124(4):423-9. doi: 10.1007/s00439-008-0566-9. Epub 2008 Oct 2.

Abstract

Febrile seizures (FS) are common in children, and the incidence is 2-5% before the age of 5 years. A four-generation Chinese family with autosomal dominant febrile seizure and epilepsy was studied by genome-wide linkage analysis. Significant linkage was identified with markers on chromosome 3q26.2-26.33 with a maximum pairwise LOD score of >3.00. Fine mapping defined the new genetic locus within a 10.7-Mb region between markers D3S3656 and D3S1232. A maximum multipoint LOD score of 5.27 was detected at marker D3S1565. A previously reported CLCN2 gene for epilepsy was excluded as the disease-causing gene in the family by mutational analysis of all exons and exon-intron boundaries of CLCN2 and by haplotype analysis. Mutation analysis of KCNMB2 and KCNMB3, which were two potassium-channel genes in this linkage region, did not reveal a disease causing mutation. Our results identified another novel locus on chromosome 3q26.2-26.33, and future studies of the candidate genes at the locus will identify a new gene for combined FS and idiopathic epilepsies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • China / epidemiology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3 / genetics*
  • Epilepsy / epidemiology
  • Epilepsy / genetics*
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Genome, Human
  • Haplotypes
  • Humans
  • Infant
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree
  • Penetrance
  • Seizures, Febrile / epidemiology
  • Seizures, Febrile / genetics*