Literature DB >> 24411498

Familial IBGC caused by SLC20A2 mutation presenting as paroxysmal kinesigenic dyskinesia.

Min Zhu1, Xuan Zhu1, Hui Wan1, Daojun Hong2.   

Abstract

Entities:  

Keywords:  Basal ganglia; Dystonia; Genetics; Movement disorders

Mesh：

Substances：

Year:  2013        PMID： 24411498     DOI： 10.1016/j.parkreldis.2013.12.006

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


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  10 in total

1.  Adult-Onset Focal Chorea in Fahr's Disease Resulting From SLC20A2 Mutation: A Novel Phenotype.

Authors:  Miryam Carecchio; Chiara Barzaghi; Claudia Varrasi; Roberto Cantello; Barbara Garavaglia
Journal:  Mov Disord Clin Pract       Date:  2014-12-06

2.  Novel mutation of SLC20A2 in an Italian patient presenting with migraine.

Authors:  Elisa Rubino; Elisa Giorgio; Salvatore Gallone; Lorenzo Pinessi; Laura Orsi; Salvatore Gentile; Sergio Duca; Alfredo Brusco
Journal:  J Neurol       Date:  2014-09-02       Impact factor: 4.849

Review 3.  Brain Calcification and Movement Disorders.

Authors:  Vladimir S Kostić; Igor N Petrović
Journal:  Curr Neurol Neurosci Rep       Date:  2017-01       Impact factor: 5.081

4.  Primary familial brain calcification: update on molecular genetics.

Authors:  Ilaria Taglia; Vincenzo Bonifati; Andrea Mignarri; Maria Teresa Dotti; Antonio Federico
Journal:  Neurol Sci       Date:  2015-02-17       Impact factor: 3.307

Review 5.  The genetics of primary familial brain calcifications.

Authors:  Ana Westenberger; Christine Klein
Journal:  Curr Neurol Neurosci Rep       Date:  2014-10       Impact factor: 5.081

6.  A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients.

Authors:  Yan Ding; Hui-Qing Dong
Journal:  Chin Med J (Engl)       Date:  2018-04-05       Impact factor: 2.628

Review 7.  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

Review 8.  Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.

Authors:  Laura Zima; Sophia Ceulemans; Gail Reiner; Serena Galosi; Dillon Chen; Michelle Sahagian; Richard H Haas; Keith Hyland; Jennifer Friedman
Journal:  Ann Clin Transl Neurol       Date:  2018-07-17       Impact factor: 4.511

Review 9.  Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.

Authors:  Li Cao; Xiaojun Huang; Ning Wang; Zhiying Wu; Cheng Zhang; Weihong Gu; Shuyan Cong; Jianhua Ma; Ling Wei; Yanchun Deng; Qi Fang; Qi Niu; Jin Wang; Zhaoxia Wang; You Yin; Jinyong Tian; Shufen Tian; Hongyan Bi; Hong Jiang; Xiaorong Liu; Yang Lü; Meizhen Sun; Jianjun Wu; Erhe Xu; Tao Chen; Tao Chen; Xu Chen; Wei Li; Shujian Li; Qinghua Li; Xiaonan Song; Ying Tang; Ping Yang; Yun Yang; Min Zhang; Xiong Zhang; Yuhu Zhang; Ruxu Zhang; Yi Ouyang; Jintai Yu; Quanzhong Hu; Qing Ke; Yuanrong Yao; Zhe Zhao; Xiuhe Zhao; Guohua Zhao; Furu Liang; Nan Cheng; Jianhong Han; Rong Peng; Shengdi Chen; Beisha Tang
Journal:  Transl Neurodegener       Date:  2021-02-16       Impact factor: 8.014

Review 10.  Paroxysmal Movement Disorders.

Authors:  Susan Harvey; Mary D King; Kathleen M Gorman
Journal:  Front Neurol       Date:  2021-06-11       Impact factor: 4.003
  10 in total

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