Literature DB >> 25349275

Child Neurology: PRRT2-associated movement disorders and differential diagnoses.

Darius Ebrahimi-Fakhari1, Keun-Sun Kang1, Urania Kotzaeridou1, Juergen Kohlhase1, Christine Klein1, Birgit E Assmann2.   

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Year:  2014        PMID： 25349275     DOI： 10.1212/WNL.0000000000000936

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  5 in total

1.  Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia.

Authors:  Puneet Jain; Suvasini Sharma; Guido Breedveld; Vincenzo Bonifati; Satinder Aneja
Journal:  J Pediatr Neurosci       Date:  2017 Jan-Mar

2.  Brain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia.

Authors:  Lei Li; Du Lei; Xueling Suo; Xiuli Li; Chen Yang; Tianhua Yang; Jiechuan Ren; Guangxiang Chen; Dong Zhou; Graham J Kemp; Qiyong Gong
Journal:  Hum Brain Mapp       Date:  2020-06-27       Impact factor: 5.038

3.  PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.

Authors:  Ming Li; Fenghe Niu; Xilin Zhu; Xiaopan Wu; Ning Shen; Xiaozhong Peng; Ying Liu
Journal:  Int J Mol Sci       Date:  2015-04-23       Impact factor: 5.923

4.  Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.

Authors:  Hong-Xia Wang; Hong-Fu Li; Gong-Lu Liu; Xiao-Dan Wen; Zhi-Ying Wu
Journal:  Chin Med J (Engl)       Date:  2016-05-05       Impact factor: 2.628

5.  Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.

Authors:  Li Yang; Cuiping You; Shiyan Qiu; Xiaofan Yang; Yufen Li; Feng Liu; Dongqing Zhang; Yue Niu; Liyun Xu; Na Xu; Xia Li; Fang Luo; Junli Yang; Baomin Li
Journal:  Brain Behav       Date:  2020-03-31       Impact factor: 2.708
  5 in total

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