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Non-Inactivating Voltage-Gated Sodium Channels In Severe Myoclonic Epilepsy Of Infancy, T. H. Rhodes, Christoph Lossin, C. Vanoye, Alfred L. George
Non-Inactivating Voltage-Gated Sodium Channels In Severe Myoclonic Epilepsy Of Infancy, T. H. Rhodes, Christoph Lossin, C. Vanoye, Alfred L. George
Christoph Lossin, Ph.D.
Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (Na(V)1.1), are associated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy of infancy (SMEI). We examined the functional properties of five SMEI mutations by using whole-cell patch-clamp analysis of heterologously expressed recombinant human SCN1A. Two mutations (F902C and G1674R) rendered SCN1A channels nonfunctional, and a third allele (G1749E) exhibited minimal functional alterations. However, two mutations within or near the S4 segment of the fourth repeat domain (R1648C and F1661S) conferred significant impairments in fast inactivation, including persistent, noninactivating …