Associated Papers
Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal.
Scorrano G et al.
Seizure, 2024
Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.
Liu X et al.
Journal of Neurology, 2022
Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.
Chen Y et al.
Frontiers of Medicine, 2021
Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families.
He J et al.
Experimental and Therapeutic 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
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
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 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 in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.
Lee YC et al.
Plos One, 2012
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
Chen WJ et al.
Nature Genetics, 2011
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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