Sodium channel mutations in epilepsy and other neurological disorders
Miriam H. Meisler, Jennifer A. Kearney
Miriam H. Meisler, Jennifer A. Kearney
Published August 1, 2005
Citation Information: J Clin Invest. 2005;115(8):2010-2017. https://doi.org/10.1172/JCI25466.
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Sodium channel mutations in epilepsy and other neurological disorders

Abstract

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.

Authors

Miriam H. Meisler, Jennifer A. Kearney

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Figure 1

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The sodium channel α and β subunits are transmembrane proteins. The 4 ho...
The sodium channel α and β subunits are transmembrane proteins. The 4 homologous domains of the α subunit are represented in different colors. The transmembrane segments associate in the membrane to form an Na+-permeable pore lined by the re-entrant S5–S6 pore-loop segments (inset).