Associated Papers
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Zhao X et al.
Orphanet Journal of Rare Diseases, 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
Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.
Huang Y et al.
Journal of Personalized Medicine, 2022
36143288 (PubMed )
Supplement: jpm-12-01503-s001.zip › jpm-1809294-supplementary.xlsx › KP_
Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.
Kim TM et al.
Bmc Cancer, 2020
33287735 (PubMed )
Supplement: 12885_2020_7684_MOESM2_ESM.xlsx › Sheet1
CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis.
Rezkalla N et al.
Clinical Case Reports, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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
Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.
Anandan C et al.
European Journal of Neurology, 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
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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
A rare case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic paralysis caused by a novel dominant mutation in CACNA1S: features and prognosis after adrenalectomy.
Yang B et al.
Bmc Urology, 2014
Reversible Severe Rhabdomyolysis Associated with Thyrotoxic Hypokalemic Periodic Paralysis.
Sathirapanya P et al.
Case Reports in Neurology, 0
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