Na plus channel mutations and epilepsy

被引:1
作者
Catterall, William A. [1 ]
机构
[1] Univ Washington, Dept Pharmacol, Seattle, WA 98195 USA
关键词
Benign familial neonatal-infantile seizures; Dravet's syndrome; Generalized epilepsy with febrile seizures plus; Inhibitory interneurons; Severe myoclonic epilepsy of infancy; Seizures;
D O I
10.1111/j.1528-1167.2010.02845.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Voltage-gated Na+ channels are the molecular targets for mutations that cause several epilepsy syndromes. Mutations that impair the function of NaV1.1 channels cause reduced Na+ currents and failure of electrical excitability in γγ-aminobutyric acid (GABA)ergic interneurons, providing a potential mechanism for hyperexcitability in a spectrum of Na+ channel epilepsy syndromes. For an expanded treatment of this topic see Jasper's Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds) published by Oxford University Press (available on the National Library of Medicine Bookshelf [NCBI] at). © 2010 International League Against Epilepsy.
引用
收藏
页码:59 / 59
页数:1
相关论文
共 4 条
[1]   NaV1.1 channels and epilepsy [J].
Catterall, William A. ;
Kalume, Franck ;
Oakley, John C. .
JOURNAL OF PHYSIOLOGY-LONDON, 2010, 588 (11) :1849-1859
[2]   Channelopathies in idiopathic epilepsy [J].
Heron, Sarah E. ;
Scheffer, Ingrid E. ;
Berkovic, Samuel F. ;
Dibbens, Leanne M. ;
Mulley, John C. .
NEUROTHERAPEUTICS, 2007, 4 (02) :295-304
[3]   Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects [J].
Meisler, Miriam H. ;
O'Brien, Janelle E. ;
Sharkey, Lisa M. .
JOURNAL OF PHYSIOLOGY-LONDON, 2010, 588 (11) :1841-1848
[4]   Molecular basis of severe myoclonic epilepsy in infancy [J].
Yamakawa, Kazuhiro .
BRAIN & DEVELOPMENT, 2009, 31 (05) :401-404