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Article

A KCNC1‐related neurological disorder due to gain of Kv3.1 function

23 Nov 2022

Abstract excerpt

OBJECTIVE: To further clarify genotype:phenotype correlations associated with variants in KCNC1 encoding the voltage-gated potassium (K+) channel subunit Kv3.1 and which are an emerging cause of a spectrum of neurological disease including intellectual disability, isolated myoclonus, progressive myoclonus epilepsy, and developmental and epileptic encephalopathy. METHODS: We describe the clinical and genetic...

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PMID: 36419348
DOI: 10.1002/acn3.51707

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