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Article

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes

1 Sept 2021

Abstract excerpt

Background: KCNC1 encodes Kv3.1, a subunit of the Kv3 voltage-gated potassium channels. It is predominantly expressed in inhibitory GABAergic interneurons and cerebellar neurons. Kv3.1 channelopathy has been linked to a variety of human diseases including epilepsy, developmental delay, and ataxia. Characterization of structural and functional disturbances of this channel, and its relationship to a heterogenous...

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Cardiac electrophysiology and arrhythmias
Genetic Neurodegenerative Diseases
Ion channel regulation and function

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34733949
DOI: 10.21037/atm-21-1885

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