Associated Papers
Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.
Shu H et al.
Journal of Molecular Neuroscience : Mn, 2026
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Zhao X et al.
Orphanet Journal of Rare Diseases, 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
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
Skeletal muscle CaV1.1 channelopathies.
Flucher BE
Pflugers Archiv : European Journal of Physiology, 2020
Improving genetic diagnostics of skeletal muscle channelopathies.
Vivekanandam V et al.
Expert Review of Molecular Diagnostics, 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
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
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
Mechanisms Responsible for ω-Pore Currents in Cav Calcium Channel Voltage-Sensing Domains.
Monteleone S et al.
Biophysical Journal, 2017
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
V876E mutation in CACNA1S gene associated with severe hypokalemic periodic paralysis in a Chinese woman.
Yang H et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2015
Channelopathies of skeletal muscle excitability.
Cannon SC
Comprehensive Physiology, 2015
A calcium channel mutant mouse model of hypokalemic periodic paralysis.
Wu F et al.
The Journal of Clinical Investigation, 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
A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis.
Hirano M et al.
Journal of the Neurological Sciences, 2011
Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.
Striessnig J et al.
Pflugers Archiv : European Journal of Physiology, 2010
Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?
Matthews E et al.
The Journal of Physiology, 2010
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.
Ke T et al.
Journal of Human Genetics, 2009
[Anesthetic treatment of periodic familial hypokalemic paralysis. Report of a case].
Martínez de Guereñu A et al.
Revista Espanola De Anestesiologia Y Reanimacion, 1996