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
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
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
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.
Imbrici P et al.
Biomedicines, 2021
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
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
Scn2a deletion improves survival and brain-heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP).
Mishra V et al.
Human Molecular Genetics, 2017
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Brownstein CA et al.
Neurogenetics, 2016
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
Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration.
Shah NH et al.
Translational Stroke Research, 2014
Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.
Tomlinson SE et al.
Brain : a Journal of Neurology, 2010
Episodic ataxia type 1: a neuronal potassium channelopathy.
Rajakulendran S et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.
Kinali M et al.
Neuromuscular Disorders : Nmd, 2004
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
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
Eunson LH et al.
Annals of Neurology, 2000
The molecular biology of the autosomal-dominant cerebellar ataxias.
Klockgether T et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2000
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
Zuberi SM et al.
Brain : a Journal of Neurology, 1999
Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.
Spauschus A et al.
Annals of the New York Academy of Sciences, 1999
Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release.
Heeroma JH et al.
Disease Models & Mechanisms, 0