Varaico: Literature-Extracted Genetic Variants

Gene:KCNMA1
Variant:p.R458*
Back to variants list

KCNMA1

NM_001161352.2:p.R458*

Associated Papers

Uncovering common genetic risk factors in migraine and epilepsy through whole exome sequencing.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

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

Yucesan E et al.

The International Journal of Neuroscience, 2024

The long and winding road to personalized medicine in KCNMA1-linked channelopathies revealed by novel variants associated with the Liang-Wang syndrome.

Soldovieri MV et al.

Acta Physiologica (oxford, England), 2022

Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.

Liang L et al.

Acta Physiologica (oxford, England), 2022

Potassium channels and autism spectrum disorder: An overview.

Cheng P et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021

Genetic updates on paroxysmal dyskinesias.

Liao JY et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Kessi M et al.

Frontiers in Genetics, 2020

32655623 (PubMed )
Supplement: Table_1.docx

KCNMA1-linked channelopathy.

Bailey CS et al.

The Journal of General Physiology, 2019

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

Yeşil G et al.

Balkan Medical Journal, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."