Associated Papers
Functions of the KCNE Gene Family in Ion Channels.
Xiao J et al.
Biochemical Genetics, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1R206H -Specific Human Cellular and Zebrafish Models.
Wentworth KL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.
Maggi L et al.
Cells, 2021
Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis.
Bautista-Medina MA et al.
Biomedical Reports, 2020
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Targeted deletion of Kcne3 impairs skeletal muscle function in mice.
King EC et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2017
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
Mellor G et al.
Circulation. Cardiovascular Genetics, 2017
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
Proost D et al.
The Journal of Molecular Diagnostics : Jmd, 2017
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
Abbott GW
Gene, 2016
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
Wang XY et al.
Molecular Medicine Reports, 2015
The role of clinical, genetic and segregation evaluation in sudden infant death.
Campuzano O et al.
Forensic Science International, 2014
A probabilistic model to predict clinical phenotypic traits from genome sequencing.
Chen YC et al.
Plos Computational Biology, 2014
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.
Crotti L et al.
Journal of the American College of Cardiology, 2012
Epistatic effects of potassium channel variation on cardiac repolarization and atrial fibrillation risk.
Mann SA et al.
Journal of the American College of Cardiology, 2012
A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.
Li FF et al.
Journal of Molecular Neuroscience : Mn, 2012
The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study.
Hedley PL et al.
Journal of Negative Results in Biomedicine, 2011
Deep resequencing of the voltage-gated potassium channel subunit KCNE3 gene in chronic tinnitus.
Sand PG et al.
Behavioral and Brain Functions : Bbf, 2011
Novel etiopathophysiological aspects of thyrotoxic periodic paralysis.
Maciel RM et al.
Nature Reviews. Endocrinology, 2011
Disruption of the K+ channel beta-subunit KCNE3 reveals an important role in intestinal and tracheal Cl- transport.
Preston P et al.
The Journal of Biological Chemistry, 2010
Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population.
Campbell CA et al.
American Journal of Medical Genetics. Part A, 2010
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.
Ke T et al.
Journal of Human Genetics, 2009
Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.
Delpón E et al.
Circulation. Arrhythmia and Electrophysiology, 2008
Association of genetic variants in GABRA3 gene and thyrotoxic hypokalaemic periodic paralysis in Thai population.
Jongjaroenprasert W et al.
Clinical Endocrinology, 2008
Autonomously functioning thyroid nodule associated with thyrotoxic periodic paralysis.
Ozaki H et al.
Endocrine Journal, 2008
Thyrotoxic periodic paralysis in an Italian man: clinical manifestation and genetic analysis.
Vendrame F et al.
Annals of Clinical Biochemistry, 2008
Toxic thyroid adenoma presenting as hypokalemic periodic paralysis.
Tagami T et al.
Endocrine Journal, 2007
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.
Jurkat-Rott K et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
Paroxysmal muscle weakness: the familial periodic paralyses.
Jurkat-Rott K et al.
Journal of Neurology, 2006
Potassium channel gene mutations rarely cause atrial fibrillation.
Ellinor PT et al.
Bmc Medical Genetics, 2006
Mutation screening in Chinese hypokalemic periodic paralysis patients.
Wang W et al.
Molecular Genetics and Metabolism, 2006
Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis.
Abbott GW et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2006
The primary periodic paralyses: diagnosis, pathogenesis and treatment.
Venance SL et al.
Brain : a Journal of Neurology, 2006
Muscle channelopathies and critical points in functional and genetic studies.
Jurkat-Rott K et al.
The Journal of Clinical Investigation, 2005
Arg16Gly polymorphism in beta2-adrenergic receptor gene is not associated with thyrotoxic periodic paralysis in Korean male patients with Graves' disease.
Kim TY et al.
Clinical Endocrinology, 2005
Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis.
Lin SH et al.
The American Journal of the Medical Sciences, 2005
Hypokalaemia and paralysis in the Thai population.
Phakdeekitcharoen B et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004
No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients.
Tang NL et al.
Clinical Endocrinology, 2004
Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.
Marchant CL et al.
Muscle & Nerve, 2004
Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation.
Jurkat-Rott K et al.
Neurology, 2004
Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis.
Kung AW et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
[Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients].
Silva MR et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.
Sternberg D et al.
Neurology, 2003
A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis.
Dias Da Silva MR et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism.
Abbott GW et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2002
Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel alpha1 subunit gene (Cav1.1) are not associated with thyrotoxic hypokalaemic periodic paralysis.
Dias da Silva MR et al.
Clinical Endocrinology, 2002
Periodic paralysis: understanding channelopathies.
Lehmann-Horn F et al.
Current Neurology and Neuroscience Reports, 2002