Associated Papers
Hypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational Spectrum.
Nader MA
Case Reports in Genetics, 2026
CACNA1S-associated triadopathy presenting with myalgia, muscle weakness, and asymptomatic hyperCKemia.
Luo S et al.
Therapeutic Advances in Neurological Disorders, 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.
Kubota T et al.
Disease Models & Mechanisms, 2023
CaV1.1 Calcium Channel Signaling Complexes in Excitation-Contraction Coupling: Insights from Channelopathies.
Campiglio M et al.
Handbook of Experimental Pharmacology, 2023
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Brugnoni R et al.
Neurogenetics, 2022
The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.
Wang Q et al.
Channels (austin, Tex.), 2021
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
Gating Pore Currents in Sodium Channels.
Groome JR et al.
Handbook of Experimental Pharmacology, 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
Elevated resting H+ current in the R1239H type 1 hypokalaemic periodic paralysis mutated Ca2+ channel.
Fuster C et al.
The Journal of Physiology, 2017
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.
Edizadeh M et al.
Archives of Iranian Medicine, 2017
Signature and Pathophysiology of Non-canonical Pores in Voltage-Dependent Cation Channels.
Held K et al.
Reviews of Physiology, Biochemistry and Pharmacology, 2016
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
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0