[HTML][HTML] Sodium channel mutations in epilepsy and other neurological disorders

MH Meisler, JA Kearney - The Journal of clinical …, 2005 - Am Soc Clin Investig
MH Meisler, JA Kearney
The Journal of clinical investigation, 2005Am Soc Clin Investig
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 …
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.
The Journal of Clinical Investigation