Associated Papers
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable1.xlsx › SupplementaryTable1_upd
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
Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
D'Adamo MC et al.
International Journal of Molecular Sciences, 2020
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Verdura E et al.
Journal of Medical Genetics, 2020
A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
van der Wijst J et al.
Nephron, 2018
Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.
Zhu J et al.
Archives of Biochemistry and Biophysics, 2012
KvDB; mining and mapping sequence variants in voltage-gated potassium channels.
Stead LF et al.
Human Mutation, 2010
Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
Shook SJ et al.
Muscle & Nerve, 2008
Episodic ataxia type 1: a neuronal potassium channelopathy.
Rajakulendran S et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
A novel mutation in KCNA1 causes episodic ataxia without myokymia.
Lee H et al.
Human Mutation, 2004
Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem.
Knight MA et al.
Human Mutation, 2000
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