Sodium channel mutations in epilepsy and other neurological disorders.
Since the first mutations of the neuronal sodium channel SCN1A were identified 5 years ago, more than 150 mutations have been described in patients with epilepsy. Many are sporadic mutations and cause loss of function, which demonstrates haploinsufficiency of SCN1A. Mutations resulting in persistent sodium current are also common. Coding variants of SCN2A, SCN8A, and SCN9A have also been identified in patients with seizures, ataxia, and sensitivity to pain, respectively. The rapid pace of discoveries suggests that sodium channel mutations are significant factors in the etiology of neurological disease and may contribute to psychiatric disorders as well.
Meisler
Miriam H
MH
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109-0618, USA. meislerm@umich.edu
Kearney
Jennifer A
JA
D000818:Animals; D002877:Chromosomes, Human / Q000235:genetics; D004827:Epilepsy / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D017136:Ion Transport / Q000235:genetics; D001523:Mental Disorders / Q000235:genetics / Q000378:metabolism; D051379:Mice; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics / Q000378:metabolism; D015222:Sodium Channels / Q000235:genetics* / Q000378:metabolism*
D015222:Sodium Channels