rs148648986

This variant is located in the KCNMA1 gene.

▶

ClinVar annotation

Uncertain Significance★★★☆
4 submitters2 publications

Generalized epilepsy-paroxysmal dyskinesia syndrome; not provided; KCNMA1-related disorder

View on ClinVar →

About KCNMA1

This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]

View all KCNMA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…