Associated Papers
The phenotype and genotype of KCNMA1 - related disorders in China.
Wang Q et al.
Seizure, 2026
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM12_ESM.xlsx › Sheet1
KCa-Related Neurological Disorders: Phenotypic Spectrum and Therapeutic Indications.
Zahra A et al.
Current Neuropharmacology, 2023
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
An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.
Miller JP et al.
Channels (austin, Tex.), 2021
BK Channel Gating Mechanisms: Progresses Toward a Better Understanding of Variants Linked Neurological Diseases.
Cui J
Frontiers in Physiology, 2021
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
KCNMA1-linked channelopathy.
Bailey CS et al.
The Journal of General Physiology, 2019
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Liang L et al.
Human Molecular Genetics, 2019
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.
Monies D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.
Tabarki B et al.
Human Genetics, 2016
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