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Article

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.

Epilepsia - 1 May 2021

Carpenter Jenna C, Männikkö Roope, Heffner Catherine, Heneine Jana, Sampedro-Castañeda Marisol, Lignani Gabriele, Schorge Stephanie

Abstract excerpt

OBJECTIVE: Mutations in KCNC1 can cause severe neurological dysfunction, including intellectual disability, epilepsy, and ataxia. The Arg320His variant, which occurs in the voltage-sensing domain of the channel, causes a highly penetrant and specific form of progressive myoclonus epilepsy with severe ataxia, designated myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK). KCNC1 encodes the...

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Dendrites
Interneurons
Mice
Mice, Inbred C57BL
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myoclonic Epilepsies, Progressive

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Identifiers

PMID: 33735526
DOI: 10.1111/epi.16867
PMCID: PMC8436768

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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