Article
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy.
Neurology - 19 Mar 2013
Chen Tim T, Klassen Tara L, Goldman Alica M, Marini Carla, Guerrini Renzo, Noebels Jeffrey L
Abstract excerpt
OBJECTIVE: To explore the potential contribution of genetic variation in voltage-gated chloride channels to epilepsy, we analyzed CLCN family (CLCN1-7) gene variant profiles in individuals with complex idiopathic epilepsy syndromes and determined the expression of these channels in human and murine brain. METHODS: We used parallel exomic sequencing of 237 ion channel subunit genes to screen individuals with a...
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