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Article

Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

Balkan medical journal - 24 Jul 2018

Yeşil Gözde, Aralaşmak Ayşe, Akyüz Enes, İçağasıoğlu Dilara, Uygur Şahin Türkan, Bayram Yavuz

Abstract excerpt

BACKGROUND: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recent research has established homozygous KCNMA1 mutations accountable for the...

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Identifiers

PMID: 29545233
DOI: 10.4274/balkanmedj.2017.0986
PMCID: PMC6060973

Genes

KCNMA1

Variants

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