Barela Arthur J, Waddy Salina P, Lickfett Jay G, Hunter Jessica, Anido Aimee, Helmers Sandra L, Goldin Alan L, Escayg Andrew
Department of Microbiology and Molecular Genetics, University of California, Irvine, California 92697-4025, USA.
J Neurosci. 2006 Mar 8;26(10):2714-23. doi: 10.1523/JNEUROSCI.2977-05.2006.
Mutations in three voltage-gated sodium channel genes, SCN1A, SCN2A, and SCN1B, and two GABAA receptor subunit genes, GABRG2 and GABRD, have been identified in families with generalized epilepsy with febrile seizures plus (GEFS+). A novel mutation, R859C, in the Nav1.1 sodium channel was identified in a four-generation, 33-member Caucasian family with a clinical presentation consistent with GEFS+. The mutation neutralizes a positively charged arginine in the domain 2 S4 voltage sensor of the Nav1.1 channel alpha subunit. This residue is conserved in mammalian sodium channels as well as in sodium channels from lower organisms. When the mutation was placed in the rat Nav1.1 channel and expressed in Xenopus oocytes, the mutant channel displayed a positive shift in the voltage dependence of sodium channel activation, slower recovery from slow inactivation, and lower levels of current compared with the wild-type channel. Computational analysis suggests that neurons expressing the mutant channel have higher thresholds for firing a single action potential and for firing multiple action potentials, along with decreased repetitive firing. Therefore, this mutation should lead to decreased neuronal excitability, in contrast to most previous GEFS+ sodium channel mutations, which have changes predicted to increase neuronal firing.
在伴有热性惊厥附加症(GEFS+)的全身性癫痫家族中,已鉴定出三个电压门控钠通道基因SCN1A、SCN2A和SCN1B以及两个GABAA受体亚基基因GABRG2和GABRD的突变。在一个有33名成员的四代白种人家庭中,鉴定出Nav1.1钠通道中的一种新突变R859C,其临床表现与GEFS+一致。该突变使Nav1.1通道α亚基结构域2 S4电压感受器中带正电荷的精氨酸失活。该残基在哺乳动物钠通道以及低等生物的钠通道中保守。当该突变置于大鼠Nav1.1通道并在非洲爪蟾卵母细胞中表达时,与野生型通道相比,突变通道在钠通道激活的电压依赖性方面出现正向偏移,从缓慢失活中恢复较慢,且电流水平较低。计算分析表明,表达突变通道的神经元产生单个动作电位和多个动作电位的阈值较高,同时重复放电减少。因此,与大多数先前预测会增加神经元放电的GEFS+钠通道突变相反,这种突变应导致神经元兴奋性降低。