Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

被引：792

作者：

Escayg, A

MacDonald, BT

Meisler, MH ^{[1
]}

Baulac, S

Huberfeld, G

An-Gourfinkel, I

Brice, A

LeGuern, E

Moulard, B

Chaigne, D

Buresi, C

Malafosse, A

机构：

[1] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

[2] Hop La Pitie Salpetriere, INSERM, U289, Paris, France

[3] Hop La Pitie Salpetriere, Ctr Epilepsie, Paris, France

[4] Genethon, Evry, France

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

[6] Clin St Odile, Strasbourg, France

来源：

NATURE GENETICS | 2000年 / 24卷 / 04期

关键词：

D O I：

10.1038/74159

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：343 / 345

页数：3

共 17 条

[1] A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33 [J].

Baulac, S ;

Gourfinkel-An, I ;

Picard, F ;

Rosenberg-Bourgin, M ;

Prud'homme, JF ;

Baulac, M ;

Brice, A ;

LeGuern, E .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) :1078-1085

[2] Phenotype variation and newcomers in ion channel disorders [J].

Bulman, DE .

HUMAN MOLECULAR GENETICS, 1997, 6 (10) :1679-1685

[3]

Catterall W A, 1999, Adv Neurol, V79, P441

[4]

ESCAYG A, IN PRESS AM J HUM GE

[5] Movement of voltage sensor S4 in domain 4 is tightly coupled to sodium channel fast inactivation and gating charge immobilization [J].

Kühn, FJP ;

Greeff, NG .

JOURNAL OF GENERAL PHYSIOLOGY, 1999, 114 (02) :167-183

[6]

LEHMANNHORN F, 1999, PHYSIOL REV, V79, P137

[7] A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2 [J].

Lopes-Cendes, I ;

Scheffer, IE ;

Berkovic, SF ;

Rousseau, M ;

Andermann, E ;

Rouleau, GA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (02) :698-701

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

Moulard, B ;

Guipponi, M ;

Chaigne, D ;

Mouthon, D ;

Buresi, C ;

Malafosse, A .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (05) :1396-1400

[9] STRUCTURE AND FUNCTION OF SODIUM-CHANNEL [J].

NODA, M ;

NUMA, S .

JOURNAL OF RECEPTOR RESEARCH, 1987, 7 (1-4) :467-497

[10]

Peiffer A, 1999, ANN NEUROL, V46, P671, DOI 10.1002/1531-8249(199910)46:4<671::AID-ANA20>3.0.CO

← 1 2 →