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

被引：115

作者：

Moulard, B

Guipponi, M

Chaigne, D

Mouthon, D

Buresi, C

Malafosse, A

机构：

[1] Hop Univ Geneve, Div Neuropsychiat, Chene Bourg, Switzerland

[2] Expt Med Lab, Montpellier, France

[3] Clin St Odile, Strasbourg, France

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 05期

关键词：

D O I：

10.1086/302621

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report the identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+). Six family members manifested isolated typical febrile seizures (FS), and five had typical FS associated with generalized epilepsy (FS+, generalized tonic/clonic seizures). Afebrile seizures occurred from childhood until the teenage years. The maximum two-point LOD score 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+ locus to be reported, which suggests that this syndrome is genetically heterogeneous.

引用

页码：1396 / 1400

页数：5

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