Associated Papers
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
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2024
A retrospective study of accuracy and usefulness of electrophysiological exercise tests.
Periviita V et al.
Journal of Neurology, 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
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 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
Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.
Kubota T et al.
Brain Communications, 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
Mechanisms Responsible for ω-Pore Currents in Cav Calcium Channel Voltage-Sensing Domains.
Monteleone S et al.
Biophysical Journal, 2017
Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy.
Chen H et al.
Scientific Reports, 2016
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
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
Hanchard NA et al.
Clinical Genetics, 2013
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
Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels.
Bidaud I et al.
Biochimie, 2011
Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype.
Matthews E et al.
Neurology, 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
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
Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.
Chabrier S et al.
Journal of Medical Genetics, 2008
[R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis].
Ke Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
[Omega pore, an alternative ion channel permeation pathway involved in the development of several channelopathies].
Moreau A et al.
Medecine Sciences : M/s, 0