Kcnc1 (potassium voltage gated channel, Shaw-related subfamily, member 1)

基因基本信息

Kcnc1 基因表型（MGI）

Heterozygosity for the epilepsy and ataxia associated p.R320H mutation affects cerebellar electrophysiology and leads to ataxia and epilepsy phenotypes; homozygous mice do not survive beyond weaning. Heterozygous expression of the p.A421V mutation associated with developmental and epileptic encephalopathy (DEE) affects cerebral cortex interneuron electrophysiology, which leads to leads to cognitive impairment, epilepsy and premature death.

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