Associated Papers
Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.
Kava H et al.
Frontiers in Pediatrics, 2025
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
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-related phenotypes in patients with a 16p11.2 deletion.
Vlaskamp DRM et al.
European Journal of Medical Genetics, 2019
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
Zeng Q et al.
Journal of Human Genetics, 2018
Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29.
Liu D et al.
Scientific Reports, 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
[Clinical features and PRRT2 gene mutation in paroxysmal kinesigenic dyskinesia].
Yang X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
Silveira-Moriyama L et al.
Developmental Medicine and Child Neurology, 2013
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Heron SE et al.
Journal of Medical Genetics, 2013
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
Cloarec R et al.
Neurology, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Heron SE et al.
American Journal of Human Genetics, 2012
The use of next-generation sequencing in movement disorders.
Krebs CE et al.
Frontiers in Genetics, 2012
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