Associated Papers
The phenotype and genotype of KCNMA1 - related disorders in China.
Wang Q et al.
Seizure, 2026
BK channel activity in skin fibroblasts from patients with neurological disorder.
Dinsdale RL et al.
Channels (austin, Tex.), 2025
Successful Lisdexamfetamine Treatment for Behavioral Arrests, Paroxysmal Nonkinesiogenic Dyskinesia, and Attention Deficits Due to a Previously Unreported KCNMA1 Variant.
Ebner S et al.
Neuropediatrics, 2025
Identification of a new gain-of-function variant p.N536Y of KCNMA1 associated with PNKD3 in the Chinese population.
Huang Y et al.
Acta Physiologica (oxford, England), 2025
KCNMA1-Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal.
Roze E et al.
Movement Disorders Clinical Practice, 2025
Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes.
Çapan ÖY et al.
Seizure, 2024
KCa-Related Neurological Disorders: Phenotypic Spectrum and Therapeutic Indications.
Zahra A et al.
Current Neuropharmacology, 2023
BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models.
Park SM et al.
Elife, 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
Reversal of behavioural phenotype by the cannabinoid-like compound VSN16R in fragile X syndrome mice.
Hurley MJ et al.
Brain : a Journal of Neurology, 2022
Lisdexamfetamine Therapy in Paroxysmal Non-kinesigenic Dyskinesia Associated with the KCNMA1-N999S Variant.
Keros S et al.
Movement Disorders Clinical Practice, 2022
Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity.
Niu Y et al.
Frontiers in Neurology, 2022
An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.
Miller JP et al.
Channels (austin, Tex.), 2021
Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.
Rodrigues Bento J et al.
Molecular Genetics & Genomic Medicine, 2021
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
Martinez-Granero F et al.
Npj Genomic Medicine, 2021
BK Channel Gating Mechanisms: Progresses Toward a Better Understanding of Variants Linked Neurological Diseases.
Cui J
Frontiers in Physiology, 2021
Molecular Mechanisms of Epileptic Encephalopathy Caused by KCNMA1 Loss-of-Function Mutations.
Yao Y et al.
Frontiers in Pharmacology, 2021
Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation.
Heim J et al.
Movement Disorders Clinical Practice, 2020
Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia.
Du X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
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
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.
Tabarki B et al.
Human Genetics, 2016