The voltage-gated sodium channel gene SCN27A and idiopathic generalized epilepsy

被引：28

作者：

Haug, K

Hallmann, K

Rebstock, J

Dullinger, J

Muth, S

Haverkamp, F

Pfeiffer, H

Rau, B

Elger, CE

Propping, P

Heils, A

机构：

[1] Univ Bonn, Dept Human Genet, D-53111 Bonn, Germany

[2] Univ Bonn, Dept Epileptol, D-53105 Bonn, Germany

[3] Univ Bonn, Dept Pediat, D-53113 Bonn, Germany

来源：

EPILEPSY RESEARCH | 2001年 / 47卷 / 03期

关键词：

epilepsy; sodium channel; genetics; SCN2A;

D O I：

10.1016/S0920-1211(01)00312-6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We tested the hypothesis that genetic variation in the human sodium channel gene SCN2A confers liability to idiopathic generalized epilepsy (IGE). We performed a systematic search for mutations in 46 familial IGE cases and detected three novel polymorphisms, however, allele frequencies did not differ significantly between patients and controls. A rare mutation (R1918H) was identified in one patient but was absent in one further affected family member. Thus, our results do not suggest a major role of SCA2A in the etiology of IGE. (C) 2001 Elsevier Science B.V. All rights reserved.

引用

收藏

页码：243 / 246

页数：4

相关论文

共 12 条

[1] PROPOSAL FOR REVISED CLASSIFICATION OF EPILEPSIES AND EPILEPTIC SYNDROMES [J].

不详 .

EPILEPSIA, 1989, 30 (04) :389-399

[2] First genetic evidence of GABAA receptor dysfunction in epilepsy:: a mutation in the γ2-subunit gene [J].

Baulac, S ;

Huberfeld, G ;

Gourfinkel-An, I ;

Mitropoulou, G ;

Beranger, A ;

Prud'homme, JF ;

Baulac, M ;

Brice, A ;

Bruzzone, R ;

LeGuern, E .

NATURE GENETICS, 2001, 28 (01) :46-48

[3] De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy [J].

Claes, L ;

Del-Favero, J ;

Ceulemans, B ;

Lagae, L ;

Van Broeckhoven, C ;

De Jonghe, P .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1327-1332

[4] Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 [J].

Escayg, A ;

MacDonald, BT ;

Meisler, MH ;

Baulac, S ;

Huberfeld, G ;

An-Gourfinkel, I ;

Brice, A ;

LeGuern, E ;

Moulard, B ;

Chaigne, D ;

Buresi, C ;

Malafosse, A .

NATURE GENETICS, 2000, 24 (04) :343-345

[5] A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -: and prevalence of variants in patients with epilepsy [J].

Escayg, A ;

Heils, A ;

MacDonald, BT ;

Haug, K ;

Sander, T ;

Meisler, MH .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (04) :866-873

[6] The voltage-gated sodium channel β2-subunit gene and idiopathic generalized epilepsy [J].

Haug, K ;

Sander, T ;

Hallmann, K ;

Rau, B ;

Dullinger, JS ;

Elger, CE ;

Propping, P ;

Heils, A .

NEUROREPORT, 2000, 11 (12) :2687-2689

[7] Genomic structures of SCN2A and SCN3A -: candidate genes for deafness at the DFNA16 locus [J].

Kasai, N ;

Fukushima, K ;

Ueki, Y ;

Prasad, S ;

Nosakowski, J ;

Sugata, K ;

Sugata, A ;

Nishizaki, K ;

Meyer, NC ;

Smith, RJH .

GENE, 2001, 264 (01) :113-122

[8] A SIMPLE SALTING OUT PROCEDURE FOR EXTRACTING DNA FROM HUMAN NUCLEATED CELLS [J].

MILLER, SA ;

DYKES, DD ;

POLESKY, HF .

NUCLEIC ACIDS RESEARCH, 1988, 16 (03) :1215-1215

[9] Ion channels and epilepsy in man and mouse [J].

Steinlein, OK ;

Noebels, JL .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2000, 10 (03) :286-291

[10] A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction [J].

Sugawara, T ;

Tsurubuchi, Y ;

Agarwala, KL ;

Ito, M ;

Fukuma, G ;

Mazaki-Miyazaki, E ;

Nagafuji, H ;

Noda, M ;

Imoto, K ;

Wada, K ;

Mitsudome, A ;

Kaneko, S ;

Montal, M ;

Nagata, K ;

Hirose, S ;

Yamakawa, K .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (11) :6384-6389