A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus

J Med Genet. 2005 Dec;42(12):947-52. doi: 10.1136/jmg.2005.031393. Epub 2005 Apr 12.

Abstract

Generalised epilepsy with febrile seizures plus (GEFS+) is a clinically and genetically heterogeneous epilepsy syndrome. Using positional cloning strategies, mutations in SCN1B, SCN1A, and GABRG2 have been identified as genetic causes of GEFS+. In the present study, we describe a large four generation family with GEFS+ in which we performed a 10 cM density genome-wide scan. We obtained conclusive evidence for a novel GEFS+ locus on chromosome 2p24 with a maximum two point logarithm of the odds (LOD) score of 4.22 for marker D2S305 at zero recombination. Fine mapping and haplotype segregation analysis in this family delineated a candidate region of 3.24 cM, corresponding to a physical distance of 4.2 Mb. Linkage to 2p24 was confirmed (p = 0.007) in a collection of 50 nuclear and multiplex families with febrile seizures and epilepsy. Transmission disequilibrium testing and association studies provided further evidence (p < 0.05) that 2p24 is a susceptibility locus for febrile seizures and epilepsy. Furthermore, we could reduce the candidate region to a 2.14 cM interval, localised between D2S1360 and D2S2342, based upon an ancestral haplotype. Identification of the disease gene at this locus will contribute to a better understanding of the complex genetic aetiology of febrile seizures and epilepsy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 2*
  • Epilepsy / genetics*
  • Family Health
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease*
  • Genome
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Lod Score
  • Male
  • Pedigree
  • Recombination, Genetic
  • Seizures, Febrile / genetics*

Substances

  • Genetic Markers