Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesia
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.25038/fullpdf
Reference9 articles.
1. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria;Bruno;Neurology,2004
2. Episodic movement disorders as channelopathies;Bhatia;Mov Disord,2000
3. Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families;Kikuchi;J Hum Genet,2007
4. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions;Lee;Cell Reports,2012
5. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia;Chen;Nat Genet,2011
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1. Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia;Heliyon;2024-04
2. Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia;Journal of Neurology;2022-04-15
3. Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China;Translational Neurodegeneration;2021-02-16
4. Neural Mechanisms of Paroxysmal Kinesigenic Dyskinesia: Insights from Neuroimaging;Journal of Neuroimaging;2020-11-23
5. The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China;Movement Disorders;2020-05-11
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