Associated Papers
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
Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker.
Hasan S et al.
Pflugers Archiv : European Journal of Physiology, 2020
Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
D'Adamo MC 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
Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I.
Karalok ZS et al.
Frontiers in Neurology, 2018
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
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
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 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