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
Characterization of two pathological gating-charge substitutions in Cav1.4 L-type calcium channels.
Heigl T et al.
Channels (austin, Tex.), 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
Case report: A novel CACNA1S mutation associated with hypokalemic periodic paralysis.
Nuzhnyi EP et al.
Frontiers in Neurology, 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
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
30319441 (PubMed )
Supplement: Table_1.DOCX
Mechanisms Responsible for ω-Pore Currents in Cav Calcium Channel Voltage-Sensing Domains.
Monteleone S et al.
Biophysical Journal, 2017
28978442 (PubMed )
Supplement: mmc1.pdf
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
Wang XY et al.
Molecular Medicine Reports, 2015
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
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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