Associated Papers
Genetic Study of a Greek Family with Hypokalemic Periodic Paralysis in Four Generations.
Yapijakis C et al.
Advances in Experimental Medicine and Biology, 2026
Hypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational Spectrum.
Nader MA
Case Reports in Genetics, 2026
Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families.
Barrachina-Esteve O et al.
Neuromuscular Disorders : Nmd, 2025
Muscle Contractility in Hypokalemic Periodic Paralysis.
Holm-Yildiz S et al.
Muscle & Nerve, 2025
Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period Paralysis.
Holm-Yildiz S et al.
Neurology. Genetics, 2024
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
Quality of life in hypokalemic periodic paralysis - a survey.
Holm-Yildiz S et al.
Neuromuscular Disorders : Nmd, 2024
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2024
Characterization of two pathological gating-charge substitutions in Cav1.4 L-type calcium channels.
Heigl T et al.
Channels (austin, Tex.), 2023
Hypokalemic periodic paralysis: a 3-year follow-up study.
Holm-Yildiz S et al.
Journal of Neurology, 2023
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
CaV1.1 Calcium Channel Signaling Complexes in Excitation-Contraction Coupling: Insights from Channelopathies.
Campiglio M et al.
Handbook of Experimental Pharmacology, 2023
Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.
Yuan JH et al.
Frontiers in Neurology, 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
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Brugnoni R et al.
Neurogenetics, 2022
Vacuolar Myopathy Associated to CACNA1S Mutation as a Rare Cause of Late-Onset Limb-Girdle Myopathy: A Case Report.
López-Hernández JC et al.
Cureus, 2021
A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.
Sadeh TT et al.
Frontiers in Genetics, 2021
Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene.
Nagasaka T et al.
Journal of Neuropathology and Experimental Neurology, 2020
Permanent muscle weakness in hypokalemic periodic paralysis.
Holm-Yildiz S et al.
Neurology, 2020
Skeletal muscle CaV1.1 channelopathies.
Flucher BE
Pflugers Archiv : European Journal of Physiology, 2020
In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis.
Tan SV et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing.
Luo S et al.
Bmc Neurology, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
When muscle Ca2+ channels carry monovalent cations through gating pores: insights into the pathophysiology of type 1 hypokalaemic periodic paralysis.
Allard B et al.
The Journal of Physiology, 2018
Review of the Diagnosis and Treatment of Periodic Paralysis.
Statland JM et al.
Muscle & Nerve, 2018
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
Na leak with gating pore properties in hypokalemic periodic paralysis V876E mutant muscle Ca channel.
Fuster C et al.
The Journal of General Physiology, 2017
Elevated resting H+ current in the R1239H type 1 hypokalaemic periodic paralysis mutated Ca2+ channel.
Fuster C et al.
The Journal of Physiology, 2017
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
Matthews E et al.
The Journal of Pediatrics, 2017
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.
Beam TA et al.
Physiological Genomics, 2017
7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses.
Weber MA et al.
Radiology, 2016
The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis.
Ke Q et al.
Neuromuscular Disorders : Nmd, 2015
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
Wang XY et al.
Molecular Medicine Reports, 2015
Channelopathies of skeletal muscle excitability.
Cannon SC
Comprehensive Physiology, 2015
Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.
Jia BX et al.
Neurological Research, 2015
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Rodríguez-Quiroga SA et al.
Genetics Research, 2015
Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?
Stunnenberg BC et al.
Muscle & Nerve, 2014
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation.
Fan C et al.
Brain : a Journal of Neurology, 2013
Gender differences in penetrance and phenotype in hypokalemic periodic paralysis.
Ke Q et al.
Muscle & Nerve, 2013
A calcium channel mutant mouse model of hypokalemic periodic paralysis.
Wu F et al.
The Journal of Clinical Investigation, 2012