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

被引:787
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
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
收藏
页码:343 / 345
页数:3
相关论文
共 17 条
  • [1] A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33
    Baulac, S
    Gourfinkel-An, I
    Picard, F
    Rosenberg-Bourgin, M
    Prud'homme, JF
    Baulac, M
    Brice, A
    LeGuern, E
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : 1078 - 1085
  • [2] Phenotype variation and newcomers in ion channel disorders
    Bulman, DE
    [J]. 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
    Kühn, FJP
    Greeff, NG
    [J]. 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
    Lopes-Cendes, I
    Scheffer, IE
    Berkovic, SF
    Rousseau, M
    Andermann, E
    Rouleau, GA
    [J]. 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
    Moulard, B
    Guipponi, M
    Chaigne, D
    Mouthon, D
    Buresi, C
    Malafosse, A
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (05) : 1396 - 1400
  • [9] STRUCTURE AND FUNCTION OF SODIUM-CHANNEL
    NODA, M
    NUMA, S
    [J]. 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