Literature DB >> 20522878

Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.

Daojun Hong, Xinghua Luan, Bin Chen, Riliang Zheng, Wei Zhang, Zhaoxia Wang, Yun Yuan.   

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Year:  2010        PMID： 20522878     DOI： 10.1136/jnnp.2009.177451

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  7 in total

1.  A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.

Authors:  Fei-Feng Li; Qian-Qian Li; Zhen-Xuan Tan; Si-Yao Zhang; Ji Liu; Er-ying Zhao; Gui-Chun Yu; Jin Zhou; Li-Ming Zhang; Shu-Lin Liu
Journal:  J Mol Neurosci       Date:  2011-08-16       Impact factor: 3.444

2.  Skeletal muscle na channel disorders.

Authors:  Dina Simkin; Saïd Bendahhou
Journal:  Front Pharmacol       Date:  2011-10-14       Impact factor: 5.810

3.  Pathophysiological role of omega pore current in channelopathies.

Authors:  Karin Jurkat-Rott; James Groome; Frank Lehmann-Horn
Journal:  Front Pharmacol       Date:  2012-06-11       Impact factor: 5.810

4.  The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis.

Authors:  Xiaobing Li; Sheng Yao; Yining Xiang; Xiaolei Zhang; Xiangbing Wu; Laimin Luo; Haihua Huang; Min Zhu; Hui Wan; Daojun Hong
Journal:  BMC Neurol       Date:  2015-03-21       Impact factor: 2.474

5.  SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review.

Authors:  Jiejing Shi; Qianqian Qu; Haiyan Liu; Wenhao Cui; Yan Zhang; Haidong Lv; Zuneng Lu
Journal:  Front Neurol       Date:  2019-10-25       Impact factor: 4.003

6.  Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V.

Authors:  Chao Fu; Zhenyu Wang; Libo Wang; Jia Li; Qiuling Sang; Jiajun Chen; Ling Qi; Hui Jin; Xiaoyang Liu
Journal:  Front Neurol       Date:  2018-06-07       Impact factor: 4.003

7.  Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing.

Authors:  XinYu Tan; SongNian Hu; Zongyu Xie; Hailiang Mei; Yang Liu; Liang Yin; Peng Shi; Qiming Chen; Daoqian Sang
Journal:  J Int Med Res       Date:  2020-09       Impact factor: 1.671
  7 in total

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