Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot.

Literature DB >> 22386217

Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot.

Li Cao, Xiao-Jun Huang, Lan Zheng, Qin Xiao, Xi-Jin Wang, Sheng-Di Chen.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2012 PMID： 22386217 DOI： 10.1016/j.parkreldis.2012.02.006

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

Keyword Cloud
Cited

× No keyword cloud information.

14 in total

Review 1. PRRT2-related disorders: further PKD and ICCA cases and review of the literature.

Authors: Felicitas Becker; Julian Schubert; Pasquale Striano; Anna-Kaisa Anttonen; Elina Liukkonen; Eija Gaily; Christian Gerloff; Stephan Müller; Nicole Heußinger; Christoph Kellinghaus; Angela Robbiano; Anne Polvi; Simone Zittel; Tim J von Oertzen; Kevin Rostasy; Ludger Schöls; Tom Warner; Alexander Münchau; Anna-Elina Lehesjoki; Federico Zara; Holger Lerche; Yvonne G Weber
Journal: J Neurol Date: 2013-01-09 Impact factor: 4.849

2. Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.

Authors: Xiaoli Liu; Huiyi Ke; Xiaohang Qian; Shige Wang; Feixia Zhan; Ziyi Li; Wotu Tian; Xiaojun Huang; Bin Zhang; Li Cao
Journal: J Neurol Date: 2022-04-15 Impact factor: 6.682

3. Altered intrinsic brain activity in patients with paroxysmal kinesigenic dyskinesia by PRRT2 mutation: altered brain activity by PRRT2 mutation.

Authors: ChunYan Luo; Yongping Chen; Wei Song; Qin Chen; QiYong Gong; Hui-Fang Shang
Journal: Neurol Sci Date: 2013-03-27 Impact factor: 3.307

Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot.

Review 1. PRRT2-related disorders: further PKD and ICCA cases and review of the literature.

2. Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.

3. Altered intrinsic brain activity in patients with paroxysmal kinesigenic dyskinesia by PRRT2 mutation: altered brain activity by PRRT2 mutation.

4. Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.

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

6. Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis.

7. Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation.

8. Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.

Review 9. The genetics of dystonia: new twists in an old tale.

Review 10. Primary and secondary dystonic syndromes: an update.