Article

Heterozygous variants in <i>KCNC2</i> cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations

2021-05-23

Abstract excerpt

<h4>Background</h4> KCNC2 encodes a member of the shaw-related voltage-gated potassium channel family (K V 3.2), which are important for sustained high-frequency firing and optimized energy efficiency of action potentials in the brain. <h4>Methods</h4> Individuals with KCNC2 variants detected by exome sequencing were selected for clinical, further genetic and functional analysis. The cases were referred through cl...

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Literature Corpus work: 67ac1657-8893-5fc9-8c01-f7a45c74bad8
DOI: 10.1101/2021.05.21.21257099

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