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
A Pediatric Case of Hypokalemic Periodic Paralysis With Fatigue and Myalgia.
Horie M et al.
Cureus, 2025
Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort.
Carbonell-Corvillo P et al.
Neurologia, 2025
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
CACNA1S Channelopathy - A Novel Missense Variant Causing Hypokalemic Periodic Paralysis.
Chityala A et al.
Indian Journal of Pediatrics, 2025
Muscle Contractility in Hypokalemic Periodic Paralysis.
Holm-Yildiz S et al.
Muscle & Nerve, 2025
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Sudden Tetraplegia from Hypokalaemic Periodic Paralysis Due to Cacna1s Mutation: Should Genetic Testing be Performed More Often?
Bedenbender S et al.
European Journal of Case Reports in Internal Medicine, 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
Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism.
Hannouneh ZA et al.
Bmc Nephrology, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Quality of life in hypokalemic periodic paralysis - a survey.
Holm-Yildiz S et al.
Neuromuscular Disorders : Nmd, 2024
Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain.
Ros-Arlanzón P et al.
Revista De Neurologia, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.
Endo Y et al.
Human Molecular Genetics, 2024
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.
Bisciglia M et al.
Journal of Neuromuscular Diseases, 2024
Hypokalemic periodic paralysis: a 3-year follow-up study.
Holm-Yildiz S et al.
Journal of Neurology, 2023
CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.
Periviita V et al.
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
Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation.
Vivekanandam V et al.
Muscle & Nerve, 2023
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.
Yuan JH et al.
Frontiers in Neurology, 2023
Voltage-dependent Ca2+ release is impaired in hypokalemic periodic paralysis caused by CaV1.1-R528H but not by NaV1.4-R669H.
DiFranco M et al.
American Journal of Physiology. Cell Physiology, 2022
A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature.
Colucci MC et al.
Italian Journal of Pediatrics, 2022
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
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
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Autophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy?
Krag TO et al.
Acta Neuropathologica Communications, 2021
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 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
Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family.
Jin JY 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
CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis.
Rezkalla N et al.
Clinical Case Reports, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study.
Kochan DC et al.
Npj 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
Hypokalemic periodic paralysis due to CACNA1S gene mutation.
Alhasan KA et al.
Neurosciences (riyadh, Saudi Arabia), 2019
Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing.
Luo S et al.
Bmc Neurology, 2019
Recovery from acidosis is a robust trigger for loss of force in murine hypokalemic periodic paralysis.
Mi W et al.
The Journal of General Physiology, 2019
Voltage sensing mechanism in skeletal muscle excitation-contraction coupling: coming of age or midlife crisis?
Hernández-Ochoa EO et al.
Skeletal Muscle, 2018
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