Associated Papers
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
Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 Mutation.
Jorge A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
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
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
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Verdura E et al.
Journal of Medical Genetics, 2020
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Yin XM et al.
Human Molecular Genetics, 2018
A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
van der Wijst J et al.
Nephron, 2018
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.
Imbrici P et al.
Molecular and Cellular Neurosciences, 2017
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia.
Hasan S et al.
Scientific Reports, 2017
Conformational dynamics of shaker-type Kv1.1 ion channel in open, closed, and two mutated states.
Bhuyan R et al.
The Journal of Membrane Biology, 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 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.
Imbrici P et al.
American Journal of Physiology. Cell Physiology, 2011
Episodic ataxia type 1: a neuronal potassium channelopathy.
Rajakulendran S et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.
Imbrici P et al.
The European Journal of Neuroscience, 2006
Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels.
Imbrici P et al.
Pflugers Archiv : European Journal of Physiology, 2003
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation.
Maylie B et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
The molecular biology of the autosomal-dominant cerebellar ataxias.
Klockgether T et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2000
Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function.
D'Adamo MC et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 1999
Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1).
Bretschneider F et al.
The European Journal of Neuroscience, 1999
Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel.
Zerr P et al.
Febs Letters, 1998
Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency.
Zerr P et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1998
Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel.
D'Adamo MC et al.
The Embo Journal, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.
Lubbers WJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 1995
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.
Browne DL et al.
Human Molecular Genetics, 1995
Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).
Brandt T et al.
Audiology & Neuro-otology, 0