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A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus
- Source :
- Journal of medical genetics
- Publication Year :
- 2005
-
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
- Subjects :
- Genetic Markers
Male
Linkage disequilibrium
Positional cloning
Short Report
Locus (genetics)
Biology
Linkage Disequilibrium
Seizures, Febrile
Epilepsy
Gene mapping
SCN1B
Genetics
medicine
Humans
Genetic Predisposition to Disease
Genetics (clinical)
Family Health
Recombination, Genetic
Genome
Genetic heterogeneity
medicine.disease
Pedigree
Haplotypes
Chromosomes, Human, Pair 2
Epilepsy syndromes
Female
Lod Score
Subjects
Details
- ISSN :
- 14686244 and 00222593
- Volume :
- 42
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- Journal of medical genetics
- Accession number :
- edsair.doi.dedup.....4ee272b65d65bd8e957f13ffa4494dc6