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
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Involvement of the Peripheral Nervous System in Episodic Ataxias.
Koźmiński W et al.
Biomedicines, 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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
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
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
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
Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations.
Tan SV et al.
Developmental Medicine and Child Neurology, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.
Glaudemans B et al.
The Journal of Clinical Investigation, 2009
Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
Shook SJ et al.
Muscle & Nerve, 2008
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
Familial continuous motor unit activity and epilepsy.
Liguori R et al.
Muscle & Nerve, 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