Literature DB >> 23948435

V876E mutation in CACNA1S gene associated with severe hypokalemic periodic paralysis in a Chinese woman.

Hongbo Yang1, Huabing Zhang2, Xiaoping Xing1.   

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Year:  2013        PMID： 23948435     DOI： 10.1016/j.jfma.2013.07.007

Source DB:  PubMed          Journal:  J Formos Med Assoc        ISSN： 0929-6646            Impact factor:   3.282


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  3 in total

1.  Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.

Authors:  Raffaella Brugnoni; Eleonora Canioni; Massimiliano Filosto; Antonella Pini; Paola Tonin; Tommaso Rossi; Carlotta Canavese; Marica Eoli; Gabriele Siciliano; Giuseppe Lauria; Renato Mantegazza; Lorenzo Maggi
Journal:  Neurogenetics       Date:  2021-10-05       Impact factor: 2.660

2.  PharmGKB summary: very important pharmacogene information for CACNA1S.

Authors:  Katrin Sangkuhl; Robert T Dirksen; Maria L Alvarellos; Russ B Altman; Teri E Klein
Journal:  Pharmacogenet Genomics       Date:  2020-02       Impact factor: 2.000

3.  The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.

Authors:  Mari Kurokawa; Michiko Torio; Kazuhiro Ohkubo; Vlad Tocan; Noriko Ohyama; Naoko Toda; Kanako Ishii; Kei Nishiyama; Yuichi Mushimoto; Ryuichi Sakamoto; Maki Nakaza; Riho Horie; Tomoya Kubota; Masanori P Takahashi; Yasunari Sakai; Masatoshi Nomura; Shouichi Ohga
Journal:  Mol Genet Genomic Med       Date:  2020-02-27       Impact factor: 2.183
  3 in total

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