Literature DB >> 22782515

Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations.

Alexander Schmidt, Kishore R Kumar, Katharina Redyk, Anne Grünewald, Matthias Leben, Alexander Münchau, Carolyn M Sue, Johann Hagenah, Hans Hartmann, Katja Lohmann, Hans-Jürgen Christen, Christine Klein.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 22782515     DOI： 10.1001/archneurol.2012.187

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


× No keyword cloud information.
  5 in total

Review 1.  Genetics of hereditary neurological disorders in children.

Authors:  Yue Huang; Sui Yu; Zhanhe Wu; Beisha Tang
Journal:  Transl Pediatr       Date:  2014-04

2.  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

3.  Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies.

Authors:  Christelle Moufawad El Achkar; Beth Rosen Sheidley; Declan O'Rourke; Masanori Takeoka; Annapurna Poduri
Journal:  Epilepsy Behav Case Rep       Date:  2017-02-01

4.  Genetic issues in the diagnosis of dystonias.

Authors:  Simona Petrucci; Enza Maria Valente
Journal:  Front Neurol       Date:  2013-04-10       Impact factor: 4.003

5.  PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum.

Authors:  Guo-He Tan; Yuan-Yuan Liu; Lu Wang; Kui Li; Ze-Qiang Zhang; Hong-Fu Li; Zhong-Fei Yang; Yang Li; Dan Li; Ming-Yue Wu; Chun-Lei Yu; Juan-Juan Long; Ren-Chao Chen; Li-Xi Li; Lu-Ping Yin; Ji-Wei Liu; Xue-Wen Cheng; Qi Shen; You-Sheng Shu; Kenji Sakimura; Lu-Jian Liao; Zhi-Ying Wu; Zhi-Qi Xiong
Journal:  Cell Res       Date:  2017-10-20       Impact factor: 25.617
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.