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Article

Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.

Human genetics - 1 Nov 2016

Tabarki Brahim, AlMajhad Nabil, AlHashem Amal, Shaheen Ranad, Alkuraya Fowzan S

Abstract excerpt

Dominant gain-of-function mutations of the KCNMA1 gene, encoding the pore-forming subunit of the large conductance voltage- and Ca2+-activated K+ channel, have been described in a few patients with the syndrome of epilepsy, paroxysmal dyskinesias and developmental delay. In this report, we describe the loss-of-function phenotype of this newly described disease gene. In two siblings from a consanguineous family...

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Source

Identifiers

PMID: 27567911
DOI: 10.1007/s00439-016-1726-y

Genes

KCNMA1

Variants

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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