Associated Papers
PRRT 2-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes.
Komar M et al.
Neurology. Genetics, 2025
PRRT2 mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy.
Motoyama R et al.
Epilepsy & Behavior Reports, 2022
Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.
Liu M et al.
Frontiers in Pediatrics, 2022
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
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
The evolving spectrum of PRRT2-associated paroxysmal diseases.
Ebrahimi-Fakhari D et al.
Brain : a Journal of Neurology, 2015
Mutations of proline-rich transmembrane protein-2 and paroxysmal kinesigenic dyskinesia in Taiwan.
Chen YC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
PRRT2 mutations and paroxysmal disorders.
Méneret A et al.
European Journal of Neurology, 2013
PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.
Lee YC et al.
Plos One, 2012
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