Article
A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction.
Proceedings of the National Academy of Sciences of the United States of America - 16 Jan 2024
Clatot Jerome, Currin Christopher B, Liang Qiansheng, Pipatpolkai Tanadet, Massey Shavonne L, Helbig Ingo, Delemotte Lucie, Vogels Tim P, Covarrubias Manuel, Goldberg Ethan M
Abstract excerpt
De novo heterozygous variants in KCNC2 encoding the voltage-gated potassium (K+) channel subunit Kv3.2 are a recently described cause of developmental and epileptic encephalopathy (DEE). A de novo variant in KCNC2 c.374G > A (p.Cys125Tyr) was identified via exome sequencing in a patient with DEE. Relative to wild-type Kv3.2, Kv3.2-p.Cys125Tyr induces K+ currents exhibiting a large hyperpolarizing shift in the...
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