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Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum

Archive ouverte | Cestèle, Sandrine | CCSD

International audience

Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine

Archive ouverte | Cestèle, Sandrine | CCSD

International audience

Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.

Archive ouverte | Cestèle, Sandrine | CCSD

International audience. PURPOSE: To report the identification of the T1174S SCN1A (NaV 1.1) mutation in a three-generation family with both epileptic and familial hemiplegic migraine (FHM) phenotypes and clarify the...

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