Article
Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.
The Journal of clinical investigation - 1 Feb 2012
Lee Hsien-yang, Nakayama Junko, Xu Ying, Fan Xueliang, Karouani Maha, Shen Yiguo, Pothos Emmanuel N, Hess Ellen J, Fu Ying-Hui, Edwards Robert H, Ptácek Louis J
Abstract excerpt
Paroxysmal nonkinesigenic dyskinesia (PNKD) is an autosomal dominant episodic movement disorder. Patients have episodes that last 1 to 4 hours and are precipitated by alcohol, coffee, and stress. Previous research has shown that mutations in an uncharacterized gene on chromosome 2q33-q35 (which is termed PNKD) are responsible for PNKD. Here, we report the generation of antibodies specific for the PNKD protein and...
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