Associated Papers
Properties of Heterochannels Kv(1.1-1.2)2 with Mutation T226R in the Kv1.1 Subunit.
Ignatova AA et al.
International Journal of Molecular Sciences, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
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
Episodic Ataxias: Faux or Real?
Giunti P 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
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Paulhus K et al.
International Journal of Molecular Sciences, 2020
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: a neuronal potassium channelopathy.
Rajakulendran S et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1.
Rea R et al.
The Journal of Physiology, 2002
Episodic ataxia type-1 mutations in the Kv1.1 potassium channel display distinct folding and intracellular trafficking properties.
Manganas LN et al.
The Journal of Biological Chemistry, 2001
The inherited episodic ataxias: how well do we understand the disease mechanisms?
Kullmann DM et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2001
Channelopathies: ion channel defects linked to heritable clinical disorders.
Felix R
Journal of Medical Genetics, 2000
The molecular biology of the autosomal-dominant cerebellar ataxias.
Klockgether T et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2000
Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel.
Zerr P et al.
Febs Letters, 1998
Three novel KCNA1 mutations in episodic ataxia type I families.
Scheffer H et al.
Human Genetics, 1998
Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release.
Heeroma JH et al.
Disease Models & Mechanisms, 0