Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (Generalized Epilepsy with Febrile Seizures Plus)

Epilepsia. 2002 Jun;43(6):581-6. doi: 10.1046/j.1528-1157.2002.43001.x.

Abstract

Febrile seizures affect 2-5% of all children younger than 6 years. A small proportion of children with febrile seizures later develop epilepsy. The syndrome of generalized epilepsy with febrile seizures plus (GEFS+) is a heterogeneous disorder characterized by febrile seizures that may persist beyond age 6 years and nonfebrile seizures. Several genes have been localized for FS by linkage analysis, and three GEFS+ genes (SCN1A, SCN1B, GABRG2) have been identified. We identified a large multigenerational family with GEFS+ in France. All affected members had FSs. Among them, seven had other types of epileptic seizures including FSs after age 6 years, nonfebrile generalized seizures, or partial seizures later in life. Genetic linkage study excluded the candidate genes and loci for FS and GEFS+, thus proving the existence of a new GEFS+ genetic locus underlying the phenotype observed in this family.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Comorbidity
  • DNA Mutational Analysis
  • Electroencephalography
  • Epilepsy, Generalized / diagnosis
  • Epilepsy, Generalized / epidemiology
  • Epilepsy, Generalized / genetics*
  • Family
  • Female
  • France / epidemiology
  • Genetic Linkage
  • Humans
  • Infant
  • Lod Score
  • Magnetic Resonance Imaging
  • Male
  • Pedigree
  • Phenotype
  • Seizures, Febrile / diagnosis
  • Seizures, Febrile / epidemiology
  • Seizures, Febrile / genetics*