Associated Papers
Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.
Chen Y et al.
Frontiers of Medicine, 2021
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
Huang XJ et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine.
Pan G et al.
Bmc Pediatrics, 2019
PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.
Liu YT et al.
Oncotarget, 2016
Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.
Zheng W et al.
Molecular Neurobiology, 2016
The evolving spectrum of PRRT2-associated paroxysmal diseases.
Ebrahimi-Fakhari D et al.
Brain : a Journal of Neurology, 2015
Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.
Zhang LM et al.
Journal of Child Neurology, 2015
[Clinical features and PRRT2 gene mutation in paroxysmal kinesigenic dyskinesia].
Yang X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations.
Tan LC et al.
European Journal of Neurology, 2014
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Heron SE et al.
Journal of Medical Genetics, 2013
PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.
Lee YC et al.
Plos One, 2012
A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia.
Kita M et al.
Movement Disorders Clinical Practice, 0
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