en
Scientific article
Open access
English

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33

Published inAmerican journal of human genetics, vol. 65, no. 4, p. 1078-1085
Publication date1999-10
Abstract

We report a clinical and genetic study of a family with a phenotype resembling generalized epilepsy with febrile seizures plus (GEFS+), described by Berkovic and colleagues. Patients express a very variable phenotype combining febrile seizures, generalized seizures often precipitated by fever at age >6 years, and partial seizures, with a variable degree of severity. Linkage analysis has excluded both the beta 1 subunit gene (SCN1B) of a voltage-gated sodium (Na+) channel responsible for GEFS+ and the two loci, FEB1 and FEB2, previously implicated in febrile seizures. A genomewide search, under the assumption of incomplete penetrance at 85% and a phenocopy rate of 5%, permitted identification of a new locus on chromosome 2q21-q33. The maximum pairwise LOD score was 3.00 at recombination fraction 0 for marker D2S2330. Haplotype reconstruction defined a large (22-cM) candidate interval flanked by markers D2S156 and D2S2314. Four genes coding for different isoforms of the alpha-subunit voltage-gated sodium channels (SCN1A, SCN2A1, SCN2A2, and SCN3A) located in this region are strong candidates for the disease gene.

eng
Keywords
  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics
  • Epilepsy, Generalized / epidemiology
  • Epilepsy, Generalized / genetics
  • Epilepsy, Generalized / physiopathology
  • Female
  • France / epidemiology
  • Genetic Markers / genetics
  • Haplotypes / genetics
  • Humans
  • Infant
  • Lod Score
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • Penetrance
  • Seizures, Febrile / epidemiology
  • Seizures, Febrile / genetics
  • Seizures, Febrile / physiopathology
  • Sodium Channels / genetics
Affiliation Not a UNIGE publication
Citation (ISO format)
BAULAC, Stéphane et al. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. In: American journal of human genetics, 1999, vol. 65, n° 4, p. 1078–1085. doi: 10.1086/302593
Main files (1)
Article (Published version)
accessLevelPublic
Identifiers
ISSN of the journal0002-9297
69views
24downloads

Technical informations

Creation11/17/2021 4:41:00 PM
First validation11/17/2021 4:41:00 PM
Update time03/16/2023 6:31:46 AM
Status update03/16/2023 6:31:45 AM
Last indexation01/17/2024 8:26:39 PM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack