Associated Papers
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
Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature.
Lauxmann S et al.
Frontiers in Neurology, 2021
Involvement of the Peripheral Nervous System in Episodic Ataxias.
Koźmiński W et al.
Biomedicines, 2020
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
Insights into channel dysfunction from modelling and molecular dynamics simulations.
Musgaard M et al.
Neuropharmacology, 2018
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.
Miceli F et al.
Frontiers in Cellular Neuroscience, 2015
New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
D'Adamo MC et al.
Frontiers in Cellular Neuroscience, 2015
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
Graves TD et al.
Brain : a Journal of Neurology, 2014
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
D'Adamo MC et al.
Frontiers in Physiology, 2014
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
Tomlinson SE et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
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