A novel missense mutation of the sodium channel α1-subunit (SCN1A) gene in one family with generalized epilepsy with febrile seizures plus (GEFS+).

被引：0
|
作者：
Yamazaki, E
Sugawara, T
Mazaki, E
Fujiwara, T
Yagi, K
Yamakawa, K
Inoue, Y
机构：
[1] RIKEN, Brain Sci Inst, Neurogenet Lab, Saitama, Japan
[2] Shizuoka Med Inst Neurol Disorders, Shizuoka, Japan
来源：
EPILEPSIA | 2005年 / 46卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：13 / 13
页数：1
相关论文
共 50 条
  • [31] Generalized epilepsy with febrile seizures plus caused by SCN1A mutation R859C
    Waddy, SP
    Helmers, SL
    Escayg, AP
    NEUROLOGY, 2004, 62 (07) : A33 - A33
  • [32] SCN1A,SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus
    Huihui Sun
    Yuehua Zhang
    Jianmin Liang
    Xiaoyan Liu
    Xiuwei Ma
    Husheng Wu
    Keming Xu
    Jiong Qin
    Yu Qi
    Xiru Wu
    Journal of Human Genetics, 2008, 53 : 769 - 774
  • [33] SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus
    Sun, Huihui
    Zhang, Yuehua
    Liang, Jianmin
    Liu, Xiaoyan
    Ma, Xiuwei
    Wu, Husheng
    Xu, Keming
    Qin, Jiong
    Qi, Yu
    Wu, Xiru
    JOURNAL OF HUMAN GENETICS, 2008, 53 (08) : 769 - 774
  • [34] Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1 subunit gene SCN1B
    Wallace, RH
    Wang, DW
    Singh, R
    Scheffer, IE
    George, AL
    Phillips, HA
    Saar, K
    Reis, A
    Johnson, EW
    Sutherland, GR
    Berkovic, SF
    Mulley, JC
    NATURE GENETICS, 1998, 19 (04) : 366 - 370
  • [35] Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B
    Robyn H. Wallace
    Dao W. Wang
    Rita Singh
    Ingrid E. Scheffer
    Alfred L. George
    Hilary A. Phillips
    Kathrin Saar
    Andre Reis
    Eric W. Johnson
    Grant R. Sutherland
    Samuel F. Berkovic
    John C. Mulley
    Nature Genetics, 1998, 19 : 366 - 370
  • [36] A novel inherited SCN1A mutation associated with GEFS plus in benign and encephalopathic epilepsy
    Gauthier, Angela C.
    Manganas, Louis N.
    Mattson, Richard H.
    JOURNAL OF CLINICAL NEUROSCIENCE, 2017, 40 : 82 - 84
  • [37] The Functional Effect of R1648H, a Sodium Channel Mutation that Causes Generalized Epilepsy with Febrile Seizures Plus in Splice Variants of SCN1A
    Fletcher, Emily V.
    Lerche, Holger
    Kullmann, Dimitri M.
    Schorge, Stephanie
    BIOPHYSICAL JOURNAL, 2010, 98 (03) : 309A - 309A
  • [38] Two cases of sudden unexpected death in epilepsy in a GEFS plus family with an SCN1A mutation
    Hindocha, Neeti
    Nashef, Lina
    Elmslie, Frances
    Birch, Rachael
    Zuberi, Sameer
    Al-Chalabi, Ammar
    Crotti, Lia
    Schwartz, Peter J.
    Makoff, Andrew
    EPILEPSIA, 2008, 49 (02) : 360 - 365
  • [39] Altered sleep regulation in a mouse model of SCN1A-derived genetic epilepsy with febrile seizures plus (GEFS+)
    Papale, Ligia A.
    Makinson, Christopher D.
    Ehlen, J. Christopher
    Tufik, Sergio
    Decker, Michael J.
    Paul, Ketema N.
    Escayg, Andrew
    EPILEPSIA, 2013, 54 (04) : 625 - 634
  • [40] Functional and biochemical analysis of a sodium channel β1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1
    Meadows, LS
    Malhotra, J
    Loukas, A
    Thyagarajan, V
    Kazen-Gillespie, KA
    Koopman, MC
    Kriegler, S
    Isom, LL
    Ragsdale, DS
    JOURNAL OF NEUROSCIENCE, 2002, 22 (24): : 10699 - 10709
12345