Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia-Reference-Cited by-同舟云学术

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

Published:2011-11-20 Issue:12 Volume:43 Page:1252-1255
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Chen Wan-Jin,Lin Yu,Xiong Zhi-Qi,Wei Wei,Ni Wang,Tan Guo-He,Guo Shun-Ling,He Jin,Chen Ya-Fang,Zhang Qi-Jie,Li Hong-Fu,Lin Yi,Murong Shen-Xing,Xu Jianfeng,Wang Ning,Wu Zhi-Ying

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.1008.pdf

Reference20 articles.

1. Kertesz, A. Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. Neurology 17, 680–690 (1967).

2. Bruno, M.K. et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 63, 2280–2287 (2004).

3. Goodenough, D.J., Fariello, R.G., Annis, B.L. & Chun, R.W. Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features. Arch. Neurol. 35, 827–831 (1978).

4. Tomita, H. et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am. J. Hum. Genet. 65, 1688–1697 (1999).

5. Swoboda, K.J. et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology 55, 224–230 (2000).

Cited by 412 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Unraveling the genetic basis of epilepsy: Recent advances and implications for diagnosis and treatment;Brain Research;2024-11

2. Epidemiological study on pediatric-onset dystonia in Japan: A questionnaire-based survey;Brain and Development;2024-09

3. Proline‐rich transmembrane protein 2 regulates the magnitude and frequency of dopamine release by repetitive neuronal stimuli in the striatum of L‐dopa‐treated mice;Neuropsychopharmacology Reports;2024-08-28

4. The ‘dispanins’ and related proteins in physiology and neurological disease;Trends in Neurosciences;2024-08

5. Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia;Journal of Genetics and Genomics;2024-08