Literature DB >> 23529024

A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees.

Xiang-Yi Jing, Xun-Hua Li, Ping Yuan, Jia Deng, Bin Hu, Yiming Wang.   

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Year:  2013        PMID: 23529024     DOI: 10.1016/j.parkreldis.2013.02.015

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN: 1353-8020            Impact factor:   4.891


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  5 in total

1.  PRRT2 mutations are related to febrile seizures in epileptic patients.

Authors:  Zheng-Wen He; Jian Qu; Ying Zhang; Chen-Xue Mao; Zhi-Bin Wang; Xiao-Yuan Mao; Zhi-Yong Deng; Bo-Ting Zhou; Ji-Ye Yin; Hong-Yu Long; Bo Xiao; Yu Zhang; Hong-Hao Zhou; Zhao-Qian Liu
Journal:  Int J Mol Sci       Date:  2014-12-16       Impact factor: 5.923

2.  Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family.

Authors:  Zhisong Ji; Quanxi Su; Lingling Hu; Qi Yang; Cuixian Liu; Jun Xiong; Fu Xiong
Journal:  BMC Neurol       Date:  2014-07-16       Impact factor: 2.474

Review 3.  IFITMs restrict the replication of multiple pathogenic viruses.

Authors:  Jill M Perreira; Christopher R Chin; Eric M Feeley; Abraham L Brass
Journal:  J Mol Biol       Date:  2013-09-25       Impact factor: 5.469

4.  Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

Authors:  Shao-Yun Zhao; Li-Xi Li; Yu-Lan Chen; Yi-Jun Chen; Gong-Lu Liu; Hai-Lin Dong; Dian-Fu Chen; Hong-Fu Li; Zhi-Ying Wu
Journal:  CNS Neurosci Ther       Date:  2019-05-23       Impact factor: 5.243

5.  Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.

Authors:  Heidi G Sutherland; Neven Maksemous; Cassie L Albury; Omar Ibrahim; Robert A Smith; Rod A Lea; Larisa M Haupt; Bronwyn Jenkins; Benjamin Tsang; Lyn R Griffiths
Journal:  Cells       Date:  2020-10-28       Impact factor: 6.600

  5 in total

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