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Article

Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy.

The International journal of neuroscience - 1 Oct 2024

Yucesan Emrah, Goncu Beyza, Ozgul Cemil, Kebapci Arda, Aslanger Ayca Dilruba, Akyuz Enes, Yesil Gozde

Abstract excerpt

KCNMA1 located on chromosome 10q22.3, encodes the pore-forming α subunit of the 'Big K+' (BK) large conductance calcium and voltage-activated K + channel. Numerous evidence suggests the functional BK channel alterations produced by different KCNMA1 alleles may associate with different symptoms, such as paroxysmal non kinesigenic dyskinesia with gain of function and ataxia with loss of function. Functional...

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PMID: 37269313
DOI: 10.1080/00207454.2023.2221814

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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