Associated Papers
BK channel activity in skin fibroblasts from patients with neurological disorder.
Dinsdale RL et al.
Channels (austin, Tex.), 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
Evaluation of four KCNMA1 channelopathy variants on BK channel current under CaV1.2 activation.
Dinsdale RL et al.
Channels (austin, Tex.), 2024
Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy.
Yucesan E et al.
The International Journal of Neuroscience, 2024
Structural mapping of patient-associated KCNMA1 gene variants.
Moldenhauer HJ et al.
Biophysical Journal, 2024
BK Channelopathies and KCNMA1-Linked Disease Models.
Meredith AL
Annual Review of Physiology, 2024
Structural mapping of patient-associated KCNMA1 gene variants.
Moldenhauer HJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Disease-associated KCNMA1 variants decrease circadian clock robustness in channelopathy mouse models.
Dinsdale RL et al.
The Journal of General Physiology, 2023
Ca2+- and Voltage-Activated K+ (BK) Channels in the Nervous System: One Gene, a Myriad of Physiological Functions.
Ancatén-González C et al.
International Journal of Molecular Sciences, 2023
KCa-Related Neurological Disorders: Phenotypic Spectrum and Therapeutic Indications.
Zahra A et al.
Current Neuropharmacology, 2023
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
BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models.
Park SM et al.
Elife, 2022
Neuronal mechanism of a BK channelopathy in absence epilepsy and dyskinesia.
Dong P et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
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
Impaired Pre-Motor Circuit Activity and Movement in a Drosophila Model of KCNMA1-Linked Dyskinesia.
Kratschmer P et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 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
A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy.
Zhang G et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
Comparative gain-of-function effects of the KCNMA1-N999S mutation on human BK channel properties.
Moldenhauer HJ et al.
Journal of Neurophysiology, 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
Effects of Single Nucleotide Polymorphisms in Human KCNMA1 on BK Current Properties.
Plante AE et al.
Frontiers in Molecular Neuroscience, 2019
Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.
Niday Z et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2018
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
Yeşil G et al.
Balkan Medical Journal, 2018
Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
Tian WT et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2018
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.
Li X et al.
European Journal of Human Genetics : Ejhg, 2018
Molecular Determinants of BK Channel Functional Diversity and Functioning.
Latorre R et al.
Physiological Reviews, 2017
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.
Tabarki B et al.
Human Genetics, 2016
Presynaptic BK channels control transmitter release: physiological relevance and potential therapeutic implications.
Griguoli M et al.
The Journal of Physiology, 2016
Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.
Villa C et al.
Frontiers in Cellular Neuroscience, 2016
Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder.
Guglielmi L et al.
Frontiers in Cellular Neuroscience, 2015
The regulation of BK channel activity by pre- and post-translational modifications.
Kyle BD et al.
Frontiers in Physiology, 2014
K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.
D'Adamo MC et al.
Frontiers in Cellular Neuroscience, 2013