Functional characterization of human SCN1A mutations associated with familial epilepsy.

被引：0
|
作者：
Lossin, C [1 ]
Rhodes, TH [1 ]
Vanoye, CG [1 ]
Wang, DW [1 ]
George, AL [1 ]
机构：
[1] Vanderbilt Univ, Nashville, TN 37232 USA
来源：
BIOPHYSICAL JOURNAL | 2003年 / 84卷 / 02期
关键词：
D O I：
暂无
中图分类号：
Q6 [生物物理学];
学科分类号：
071011 ;
摘要：
引用
收藏
页码：217A / 218A
页数：2
相关论文
共 50 条
  • [21] Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
    Ohmori, I
    Ouchida, M
    Ohtsuka, Y
    Oka, E
    Shimizu, K
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2002, 295 (01) : 17 - 23
  • [22] Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity
    Kanai, K
    Hirose, S
    Oguni, H
    Fukuma, G
    Shirasaka, Y
    Miyajima, T
    Wada, K
    Iwasa, H
    Yasumoto, S
    Matsuo, M
    Ito, M
    Mitsudome, A
    Kaneko, S
    NEUROLOGY, 2004, 63 (02) : 329 - 334
  • [23] Two Novel Mutations in SCN1A Gene in Iranian Patients with Epilepsy
    Ebrahimi, Ahmad
    Houshmand, Massoud
    Tonekaboni, Seyed Hassan
    Passand, Mohammd Sadegh Fallah Mahboob
    Zainali, Sirous
    Moghadasi, Mehdi
    ARCHIVES OF MEDICAL RESEARCH, 2010, 41 (03) : 207 - 214
  • [24] Functional characterisation of novel SCN1A mutations in epileptic disorders
    Kluckova, D.
    Tarabova, B.
    Kolnikova, M.
    Ficek, A.
    Lacinova, L.
    Kadasi, L.
    Soltysova, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 276 - 276
  • [25] SCN1A missense mutation associated with infantile partial epilepsy
    Ohmori, Iori
    Ouchida, Mamoru
    Kobayashi, Katsuhiro
    Ohtsuka, Yoko
    Shimizu, Kenji
    Nishiki, Teiichi
    Tomizawa, Kazuhito
    Matsui, Hideki
    NEUROSCIENCE RESEARCH, 2007, 58 : S187 - S187
  • [26] The identifying in SCN1A gene a novel variants associated with epilepsy
    Belenikin, M.
    Slavokhotova, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 970 - 971
  • [27] POLYMORPHISM IN SCN1A GENE IS NOT ASSOCIATED WITH DRUG RESISTANCE IN EPILEPSY
    Handoko, K.
    Majoie, M.
    Hermans, M.
    Zwart, J.
    Hermens, W.
    Egberts, T.
    Hekster, C.
    EPILEPSIA, 2009, 50 : 214 - 214
  • [28] Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus
    Li, Nan
    Zhang, Jie
    Guo, Ji-feng
    Yan, Xin-xiang
    Xia, Kun
    Tang, Bei-sha
    NEUROSCIENCE LETTERS, 2010, 480 (03) : 211 - 214
  • [29] The novel L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine:: genetic and functional studies
    Vanmolkot, K. R. J.
    Babini, E.
    de Vries, B.
    Stam, A. H.
    Freilinger, T.
    Haan, J.
    Welch, M. A.
    Ramadan, N. M.
    Terwindt, G. M.
    Pusch, M.
    Ferrari, M. D.
    Dichgans, M.
    van den Maagdenberg, A. M. J. M.
    CEPHALALGIA, 2006, 26 (11) : 1365 - 1366
  • [30] Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A
    Wang, Jing-Yang
    Tang, Bin
    Sheng, Wen-Xiang
    Hua, Li-Dong
    Zeng, Yang
    Fan, Cui-Xia
    Deng, Wei-Yi
    Gao, Mei-Mei
    Zhu, Wei-Wen
    He, Na
    Su, Tao
    FRONTIERS IN MOLECULAR NEUROSCIENCE, 2022, 15
12345