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Article

A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation.

Journal of neurophysiology - 1 Aug 2021

Zhang Yalan, Ali Syed R, Nabbout Rima, Barcia Giulia, Kaczmarek Leonard K

Abstract excerpt

Channelopathies caused by mutations in genes encoding ion channels generally produce a clear change in channel function. Accordingly, mutations in KCNC1, which encodes the voltage-dependent Kv3.1 potassium channel, result in progressive myoclonus epilepsy as well as other developmental and epileptic encephalopathies, and these have been shown to reduce or fully abolish current amplitude. One exception to this is...

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Source

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Identifiers

PMID: 34232791
DOI: 10.1152/jn.00257.2021
PMCID: PMC8409950

Genes

KCNC1
KCNT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation.PMID 34232791Read ↗

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