Associated Papers
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
36016548 (PubMed )
Supplement: Data_Sheet_2.PDF
A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.
Zhao J et al.
International Journal of Molecular Sciences, 2020
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