Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal.
Scorrano G et al.
Seizure, 2024
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
Genetic and phenotypic analyses of PRRT2 positive and negative paroxysmal kinesigenic dyskinesia.
Zhang Y et al.
Therapeutic Advances in Neurological Disorders, 2024
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
Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.
Zhao SY et al.
Cns Neuroscience & Therapeutics, 2020
A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.
Baldi S et al.
Behavioural Neurology, 2020
PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization.
Tsai MH et al.
Epilepsia, 2019
Clinical characteristics and PRRT2 gene mutation analysis of sporadic patients with paroxysmal kinesigenic dyskinesia in China.
Zhang Y et al.
Clinical Neurology and Neurosurgery, 2017
PRRT2 mutations are related to febrile seizures in epileptic patients.
He ZW et al.
International Journal of Molecular Sciences, 2014
PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China.
Chen YP et al.
European Journal of Neurology, 2014
Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.
Huguet G et al.
Plos One, 2014
Altered intrinsic brain activity in patients with paroxysmal kinesigenic dyskinesia by PRRT2 mutation: altered brain activity by PRRT2 mutation.
Luo C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2013
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
A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees.
Jing XY et al.
Parkinsonism & Related Disorders, 2013
Missense mutations of the proline-rich transmembrane protein 2 gene cosegregate with mild paroxysmal kinesigenic dyskinesia and infantile convulsions in a Chinese pedigree.
Cai C et al.
Parkinsonism & Related Disorders, 2013
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
Cloarec R et al.
Neurology, 2012
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Gardiner AR et al.
Neurology, 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