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
Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.
Boßelmann CM et al.
Ebiomedicine, 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
Hereditary kidney diseases associated with hypomagnesemia.
Claverie-Martin F et al.
Kidney Research and Clinical Practice, 2021
Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.
Maggi L et al.
Cells, 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
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
Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine.
Manville RW et al.
The Journal of Pharmacology and Experimental Therapeutics, 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
Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.
Bianchi F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
A proposed nosology of inborn errors of metabolism.
Ferreira CR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Genetics of Magnesium Disorders.
Li H et al.
Kidney Diseases (basel, Switzerland), 2017
Inherited and acquired disorders of magnesium homeostasis.
Wolf MT
Current Opinion in Pediatrics, 2017
Magnesium in man: implications for health and disease.
de Baaij JH et al.
Physiological Reviews, 2015
New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
D'Adamo MC et al.
Frontiers in Cellular Neuroscience, 2015
Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.
Zhu J et al.
Archives of Biochemistry and Biophysics, 2012
Transient receptor potential melastatin 6 knockout mice are lethal whereas heterozygous deletion results in mild hypomagnesemia.
Woudenberg-Vrenken TE et al.
Nephron. Physiology, 2011
Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces.
Venselaar H et al.
Bmc Bioinformatics, 2010
Novel molecular pathways in renal Mg2+ transport: a guided tour along the nephron.
San-Cristobal P et al.
Current Opinion in Nephrology and Hypertension, 2010
Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.
van der Wijst J et al.
The Journal of Biological Chemistry, 2010
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