Literature DB >> 25745790

Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation.

Hasmet A Hanagasi1, Başar Bilgiç2, Truus E M Abbink3, Figen Hanagasi4, Zeynep Tüfekçioğlu2, Hakan Gürvit2, Nazlı Başak5, Marjo S van der Knaap3, Murat Emre2.   

Abstract

Entities:  

Keywords:  CLCN2 gene mutation; Chloride channel-2; Leukoencephalopathy; Paroxysmal kinesigenic dyskinesia

Mesh：

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Year:  2015        PMID： 25745790     DOI： 10.1016/j.parkreldis.2015.02.013

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


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  4 in total

1.  Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.

Authors:  Héctor Gaitán-Peñas; Pirjo M Apaja; Tanit Arnedo; Aida Castellanos; Xabier Elorza-Vidal; David Soto; Xavier Gasull; Gergely L Lukacs; Raúl Estévez
Journal:  J Physiol       Date:  2017-10-09       Impact factor: 5.182

2.  Development and validation of a potent and specific inhibitor for the CLC-2 chloride channel.

Authors:  Anna K Koster; Austin L Reese; Yuri Kuryshev; Xianlan Wen; Keri A McKiernan; Erin E Gray; Caiyun Wu; John R Huguenard; Merritt Maduke; J Du Bois
Journal:  Proc Natl Acad Sci U S A       Date:  2020-12-04       Impact factor: 12.779

Review 3.  Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Authors:  Giacomo Garone; Alessandro Capuano; Lorena Travaglini; Federica Graziola; Fabrizia Stregapede; Ginevra Zanni; Federico Vigevano; Enrico Bertini; Francesco Nicita
Journal:  Int J Mol Sci       Date:  2020-05-20       Impact factor: 5.923

4.  Two Different Copy Number Variations of the CLCN2 Gene in Chinese Cattle and Their Association with Growth Traits.

Authors:  Jia Tang; Xuemei Shen; Yu Yang; Haiyan Yang; Ao Qi; Shuling Yang; Kaixing Qu; Xianyong Lan; Bizhi Huang; Hong Chen
Journal:  Animals (Basel)       Date:  2021-12-26       Impact factor: 2.752
  4 in total

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