Title: A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus
Authors: Audenaert, D ×
Claes, L
Claeys, Kristl
Deprez, L
Van Dyck, Tine
Goossens, D
Del-Favero, J
Van Paesschen, Wim
Van Broeckhoven, C
De Jonghe, P #
Issue Date: Dec-2005
Publisher: British Medical Association
Series Title: Journal of Medical Genetics vol:42 issue:12 pages:947-952
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.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
Research Group Experimental Neurology
Laboratory for Epilepsy Research
× corresponding author
# (joint) last author

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