Associated Papers
CACNA1S Channelopathy - A Novel Missense Variant Causing Hypokalemic Periodic Paralysis.
Chityala A et al.
Indian Journal of Pediatrics, 2025
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.
Zhou W et al.
Bmc Pediatrics, 2023
Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.
Kubota T et al.
Disease Models & Mechanisms, 2023
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report.
Benítez-Alonso EO et al.
Cureus, 2022
Novel CACNA1S mutation in hypokalaemic periodic paralysis.
Luís T et al.
Bmj Case Reports, 2022
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Brugnoni R et al.
Neurogenetics, 2022
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia N et al.
Kidney360, 2021
Skeletal muscle CaV1.1 channelopathies.
Flucher BE
Pflugers Archiv : European Journal of Physiology, 2020
The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.
Kurokawa M et al.
Molecular Genetics & Genomic Medicine, 2020
Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G).
Weber MA et al.
Journal of Neurology, 2019
Diverse phenotype of hypokalaemic periodic paralysis within a family.
Chalissery AJ et al.
Practical Neurology, 2018
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Laugel-Haushalter V et al.
Frontiers in Physiology, 2018
Mechanisms Responsible for ω-Pore Currents in Cav Calcium Channel Voltage-Sensing Domains.
Monteleone S et al.
Biophysical Journal, 2017
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
Wang XY et al.
Molecular Medicine Reports, 2015
The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis.
Kim JB et al.
Korean Journal of Pediatrics, 2014
Genotype and phenotype analysis of patients with sporadic periodic paralysis.
Sung CC et al.
The American Journal of the Medical Sciences, 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
Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype.
Matthews E et al.
Neurology, 2011
INa and IKir are reduced in Type 1 hypokalemic and thyrotoxic periodic paralysis.
Puwanant A et al.
Muscle & Nerve, 2010
A practical approach to genetic hypokalemia.
Lin SH et al.
Electrolyte & Blood Pressure : E & Bp, 2010
Reduced expression and abnormal localization of the K(ATP) channel subunit SUR2A in patients with familial hypokalemic periodic paralysis.
Kim SJ et al.
Biochemical and Biophysical Research Communications, 2010
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.
Ke T et al.
Journal of Human Genetics, 2009
The role of CACNA1S in predisposition to malignant hyperthermia.
Carpenter D et al.
Bmc Medical Genetics, 2009
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Matthews E et al.
Neurology, 2009
Cloning, sequencing and identification of single nucleotide polymorphisms of partial sequence on the porcine CACNA1S gene.
Fang X et al.
Science in China. Series C, Life Sciences, 2008
Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation.
Meyer T et al.
Muscle & Nerve, 2008
Toxic thyroid adenoma presenting as hypokalemic periodic paralysis.
Tagami T et al.
Endocrine Journal, 2007
The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
Kim JB et al.
Journal of Korean Medical Science, 2007
Gating of the HypoPP-1 mutations: I. Mutant-specific effects and cooperativity.
Kuzmenkin A et al.
Pflugers Archiv : European Journal of Physiology, 2007
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation.
Winczewska-Wiktor A et al.
Advances in Medical Sciences, 2007
[About two cases of hypokaliemic periodic paralysis].
Burtey S et al.
Nephrologie & Therapeutique, 2006
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
A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).
Kim JB et al.
Journal of Korean Medical Science, 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
Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.
Marchant CL et al.
Muscle & Nerve, 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
Severe prognosis in a large family with hypokalemic periodic paralysis.
Caciotti A et al.
Muscle & Nerve, 2003
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 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
Thyrotoxicosis and paraparesis in a young woman: case report and review of the literature.
Mellgren G et al.
Thyroid : Official Journal of the American Thyroid Association, 2002
Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.
Davies NP et al.
Neurology, 2001
The skeletal muscle channelopathies: basic science, clinical genetics and treatment.
Davies NP et al.
Current Opinion in Neurology, 2001
Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.
Sternberg D et al.
Brain : a Journal of Neurology, 2001
Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis.
Kim SH et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2001
Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis.
Domínguez-Morán JA et al.
Seizure, 2000