A Novel Mutation in CACNA1S Gene Associated with Hypokalemic Periodic Paralysis Which has a Gender Difference in the Penetrance-Reference-Cited by-同舟云学术

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A Novel Mutation in CACNA1S Gene Associated with Hypokalemic Periodic Paralysis Which has a Gender Difference in the Penetrance

Published:2011-08-16 Issue:2 Volume:46 Page:378-383
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Li Fei-Feng,Li Qian-Qian,Tan Zhen-Xuan,Zhang Si-Yao,Liu Ji,Zhao Er-ying,Yu Gui-Chun,Zhou Jin,Zhang Li-Ming,Liu Shu-Lin

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12031-011-9596-1.pdf

Reference19 articles.

1. Abbott GW, Butler MH, Bendahhou S, Dalakas MC, Ptacek LJ, Goldstein SA (2001) MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell 104:217–231

2. Carpenter D, Ringrose C, Leo V, Morris A, Robinson RL, Halsall PJ, Hopkins PM, Shaw MA (2009) The role of CACNA1S in predisposition to malignant hyperthermia. BMC Med Genet 10:104

3. Catterall WA (1988) Structure and function of voltage-sensitive ion channels. Science 242:50–61

4. Chabrier S, Monnier N, Lunardi J (2008) Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene. J Med Genet 45:686–688

5. Elbaz A, Vale-Santos J, Jurkat-Rott K, Lapie P, Ophoff RA, Bady B, Links TP, Piussan C, Vila A, Monnier N et al (1995) Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families. Am J Hum Genet 56:374–380

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis;Frontiers in Neurology;2024-02-15

2. A mesomelic skeletal dysplasia, Kantaputra‐like, not related to HOXD cluster region, and with phenotypic gender differences;American Journal of Medical Genetics Part A;2023-10-17

3. Case report: A novel CACNA1S mutation associated with hypokalemic periodic paralysis;Frontiers in Neurology;2023-09-29

4. Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan;Frontiers in Neurology;2023-01-26

5. Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family;Frontiers in Genetics;2021-10-29

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