Paroxysmal choreoathetosis

Common Name(s)

Paroxysmal choreoathetosis

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Paroxysmal choreoathetosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Paroxysmal choreoathetosis" returned 24 free, full-text research articles on human participants. First 3 results:

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.
 

Author(s): Xiaoling Yang, Yuehua Zhang, Xiaojing Xu, Shuang Wang, Zhixian Yang, Ye Wu, Xiaoyan Liu, Xiru Wu

Journal:

 

Mutations in the PRRT2 gene have been identified as the major cause of benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with paroxysmal choreoathetosis/dyskinesias (ICCA). Here, we analyzed the phenotypes and PRRT2 mutations ...

Last Updated: 21 Jan 2014

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Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.
 

Author(s): Jingyun Li, Xilin Zhu, Xin Wang, Wei Sun, Bing Feng, Te Du, Bei Sun, Fenghe Niu, Hua Wei, Xiaopan Wu, Lei Dong, Liping Li, Xingqiu Cai, Yuping Wang, Ying Liu

Journal: J. Med. Genet.. 2012 Feb;49(2):76-8.

 

Paroxysmal kinesigenic choreoathetosis (PKC) is characterised by recurrent and brief attacks of involuntary movement, inherited as an autosomal dominant trait with incomplete penetrance. A PKC locus has been previously mapped to the pericentromeric region of chromosome 16 (16p11.2-q12.1), ...

Last Updated: 13 Jan 2012

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[Oxcarbazepine in the treatment of kinesigenic paroxysmal choreoathetosis].
 

Author(s): S Iglesias-Gómez, F J Vadillo-Olmo, J Abella-Corral, I Rodríguez-Constenla, M Peleteiro-Fernández, A Castro-García, M Noya-García

Journal: Rev Neurol. ;41(5):314-6.

 

Last Updated: 2 Sep 2005

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Paroxysmal choreoathetosis" returned 1 free, full-text review articles on human participants. First 3 results:

Paroxysmal kinesigenic choreoathetosis.
 

Author(s): I S Choi, J H Kim, W Y Jung

Journal: Yonsei Med. J.. 1996 Feb;37(1):68-71.

 

Paroxysmal kinesigenic choreoathetosis (PKC) is characterized by short paroxysms of focal or generalized involuntary movement induced by sudden movements, and is a well-known disease in the neurologic literature, but only 4 cases have been reported in Korea. The purpose of the presentation ...

Last Updated: 9 Dec 1996

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