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
Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.
Paulhus K et al.
International Journal of Molecular Sciences, 2023
Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.
Dinoi G et al.
International Journal of Molecular Sciences, 2022
Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.
Boßelmann CM et al.
Ebiomedicine, 2022
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants.
Miceli F et al.
Epilepsia, 2022
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
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
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Paulhus K 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
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
Rogers A et al.
American Journal of Medical Genetics. Part A, 2018
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