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
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
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