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Article

An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.

Channels (Austin, Tex.) - 1 Dec 2021

Miller Jacob P, Moldenhauer Hans J, Keros Sotirios, Meredith Andrea L

Abstract excerpt

KCNMA1-linked channelopathy is an emerging neurological disorder characterized by heterogeneous and overlapping combinations of movement disorder, seizure, developmental delay, and intellectual disability. KCNMA1 encodes the BK K+ channel, which contributes to both excitatory and inhibitory neuronal and muscle activity. Understanding the basis of the disorder is an important area of active investigation; however,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34224328
DOI: 10.1080/19336950.2021.1938852
PMCID: PMC8259716

Provenance

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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