Associated Papers
A conifer metabolite corrects episodic ataxia type 1 by voltage sensor-mediated ligand activation of Kv1.1.
Manville RW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.
Xie C et al.
Molecular Neurobiology, 2024
Native American ataxia medicines rescue ataxia-linked mutant potassium channel activity via binding to the voltage sensing domain.
Manville RW et al.
Nature Communications, 2023
Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.
Paulhus K et al.
International Journal of Molecular Sciences, 2023
Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia.
Manville RW et al.
Frontiers in Neurology, 2022
Hereditary kidney diseases associated with hypomagnesemia.
Claverie-Martin F et al.
Kidney Research and Clinical Practice, 2021
Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.
Yuan H et al.
Molecular Genetics & Genomic Medicine, 2020
Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine.
Manville RW et al.
The Journal of Pharmacology and Experimental Therapeutics, 2020
Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
D'Adamo MC et al.
International Journal of Molecular Sciences, 2020
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Paulhus K et al.
International Journal of Molecular Sciences, 2020
Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.
Bianchi F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Verdura E et al.
Journal of Medical Genetics, 2020
Learning Physiology From Inherited Kidney Disorders.
van der Wijst J et al.
Physiological Reviews, 2019
A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
van der Wijst J et al.
Nephron, 2018