Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33

Authors
Moulard, B Guipponi, M Chaigne, D Mouthon, D Buresi, C Malafosse, A
Citation
B. Moulard et al., Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33, AM J HU GEN, 65(5), 1999, pp. 1396-1400
Citations number
26
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF HUMAN GENETICS
ISSN journal
00029297 → ACNP
Volume
65
Issue
5
Year of publication
1999
Pages
1396 - 1400
Database
ISI
SICI code
0002-9297(199911)65:5<1396:IOANLF>2.0.ZU;2-O
Abstract
We report the identification of a new locus for generalized epilepsy with f ebrile seizures plus (GEFS+). Six family members manifested isolated typica l febrile seizures (FS), and five had typical FS associated with generalize d epilepsy (FS+, generalized tonic/clonic seizures). Afebrile seizures occu rred from childhood until the teenage years. The maximum two-point LOD scor e was 3.99 for markers D2S294 and D2S2314. Flanking markers place the GEFS locus between D2S141 and D2S116, with multipoint analysis favoring the 13- cM interval spanned by D2S294 and D2S364. This locus is the second GEFS+ lo cus to be reported, which suggests that this syndrome is genetically hetero geneous.