A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2 |
| |
Authors: | Lopes-Cendes I Scheffer I E Berkovic S F Rousseau M Andermann E Rouleau G A |
| |
Affiliation: | Centre for Research in Neuroscience, The Montreal General Hospital Research Institute, Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada. |
| |
Abstract: | Generalized epilepsy with febrile seizures plus (GEFS+) is a recently recognized but relatively common form of inherited childhood-onset epilepsy with heterogeneous epilepsy phenotypes. We genotyped 41 family members, including 21 affected individuals, to localize the gene causing epilepsy in a large family segregating an autosomal dominant form of GEFS+. A genomewide search examining 197 markers identified linkage of GEFS+ to chromosome 2, on the basis of an initial positive LOD score for marker D2S294 (Z=4.4, recombination fraction [straight theta] = 0). A total of 24 markers were tested on chromosome 2q, to define the smallest candidate region for GEFS+. The highest two-point LOD score (Zmax=5.29; straight theta=0) was obtained with marker D2S324. Critical recombination events mapped the GEFS+ gene to a 29-cM region flanked by markers D2S156 and D2S311, with the idiopathic generalized epilepsy locus thereby assigned to chromosome 2q23-q31. The existence of the heterogeneous epilepsy phenotypes in this kindred suggests that seizure predisposition determined by the GEFS+ gene on chromosome 2q could be modified by other genes and/or by environmental factors, to produce the different seizure types observed. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|