Pain without Gain (of Function): Sodium Channel Dysfunction in Epilepsy
نویسندگان
چکیده
منابع مشابه
Gain-of-function variant of the human epithelial sodium channel.
Epithelial Na(+) channel (ENaC) mutations are associated with several human disorders, underscoring the importance of these channels in human health. Recent human genome sequencing projects have revealed a large number of ENaC gene variations, several of which have been found in individuals with salt-sensitive hypertension, cystic fibrosis, and other disorders. However, the functional consequen...
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15 صفحه اولEpilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.
Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha1 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 ex...
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ژورنال
عنوان ژورنال: Epilepsy Currents
سال: 2004
ISSN: 1535-7597,1535-7511
DOI: 10.1111/j.1535-7597.2004.44014.x