Associated Papers
The phenotype and genotype of KCNMA1 - related disorders in China.
Wang Q et al.
Seizure, 2026
Toll-like receptor 4 deficiency in Purkinje neurons drives cerebellar ataxia by impairing the BK channel-mediated after-hyperpolarization and cytosolic calcium homeostasis.
Zhu J et al.
Cell Death & Disease, 2024
Structural mapping of patient-associated KCNMA1 gene variants.
Moldenhauer HJ et al.
Biophysical Journal, 2024
Potential Benefit of Channel Activators in Loss-of-Function Primary Potassium Channelopathies Causing Heredoataxia.
Gazulla J et al.
Cerebellum (london, England), 2024
Structural mapping of patient-associated KCNMA1 gene variants.
Moldenhauer HJ et al.
Biorxiv : the Preprint Server for Biology, 2023
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
Vulnerability of Human Cerebellar Neurons to Degeneration in Ataxia-Causing Channelopathies.
Bushart DD et al.
Frontiers in Systems Neuroscience, 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
Molecular Mechanisms of Epileptic Encephalopathy Caused by KCNMA1 Loss-of-Function Mutations.
Yao Y et al.
Frontiers in Pharmacology, 2021
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
KCNMA1-linked channelopathy.
Bailey CS et al.
The Journal of General Physiology, 2019
Ion channel dysfunction in cerebellar ataxia.
Bushart DD et al.
Neuroscience Letters, 2019
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