Recurrent and non-recurrent mutations of SCN8A in epileptic encephalopathy

被引：97

作者：

Wagnon, Jacy L. ^{[1
]}

Meisler, Miriam H. ^{[1
]}

机构：

[1] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

来源：

FRONTIERS IN NEUROLOGY | 2015年 / 6卷

关键词：

sodium channel; epilepsy; seizures; SUDEP; CpG; Dravet syndrome; mutation; SODIUM-CHANNEL SCN8A; DE-NOVO MUTATIONS; SEVERE MYOCLONIC EPILEPSY; GAIN-OF-FUNCTION; SCN2A MUTATION; GENE SCN2A; SEIZURES; NA(V)1.6; PATIENT; FAMILY;

D O I：

10.3389/fneur.2015.00104

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations of the voltage-gated sodium channel SCN8A have been identified in approximately 1% of nearly 1,500 children with early-infantile epileptic encephalopathies (EIEE) who have been tested by DNA sequencing. FIFE caused by mutation of SCN8A is designated EIEE13 (OMIM #614558). Affected children have seizure onset before 18 months of age as well as developmental and cognitive disabilities, movement disorders, and a high incidence of sudden death (SUDEP). EIEE13 is caused by de novo missense mutations of evolutionarily conserved residues in the Na(v)1.6 channel protein. One-third of the mutations are recurrent, and many occur at CpG dinucleotides. In this review, we discuss the effect of pathogenic mutations on the structure of the channel protein, the rate of recurrent mutation, and changes in channel function underlying this devastating disorder.

引用

页数：7

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