Article
Can rodent models elucidate the pathomechanisms of genetic epilepsy?
10 Mar 2021
Abstract excerpt
Autosomal dominant sleep-related hypermotor epilepsy (ADSHE; previously autosomal dominant nocturnal frontal lobe epilepsy, ADNFLE), originally reported in 1994, was the first distinct genetic epilepsy shown to be caused by CHNRA4 mutation. In the past two decades, we have identified several functional abnormalities of mutant ion channels and their associated transmissions using several experiments involving...
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