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Epilepsy-Associated Dysfunction In The Voltage-Gated Neuronal Sodium Channel Scn1a, Christoph Lossin, T. Rhodes, R. Desai, C. Vanoye, S. Caniciu, O. Devinsky, A. George
Epilepsy-Associated Dysfunction In The Voltage-Gated Neuronal Sodium Channel Scn1a, Christoph Lossin, T. Rhodes, R. Desai, C. Vanoye, S. Caniciu, O. Devinsky, A. George
Christoph Lossin, Ph.D.
Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel subunit (Nav1.1) are associated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI). We examined the functional properties of four GEFS+ alleles and one SMEI allele using whole-cell patch-clamp analysis of heterologously expressed recombinant human SCN1A. One previously reported GEFS+ mutation (I1656M) and an additional novel allele (R1657C), both affecting residues in a voltage-sensing S4 segment, exhibited a similar depolarizing shift in the voltage dependence of activation. Additionally, R1657C showed a 50% reduction in current density and …