Associated Papers
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
Genetic and phenotypic analyses of PRRT2 positive and negative paroxysmal kinesigenic dyskinesia.
Zhang Y et al.
Therapeutic Advances in Neurological Disorders, 2024
Long-term low-dose lamotrigine for paroxysmal kinesigenic dyskinesia: a two-year investigation of cognitive function in children.
You DD et al.
Frontiers in Psychiatry, 2024
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM et al.
The Lancet. Neurology, 2023
Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.
Wadon ME et al.
Journal of Neurology, 2022
The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.
Leduc-Pessah H et al.
Genes, 2022
Proline-rich transmembrane protein 2 specifically binds to GluA1 but has no effect on AMPA receptor-mediated synaptic transmission.
Feng HY et al.
Journal of Clinical Laboratory Analysis, 2022
Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.
Liu M et al.
Frontiers in Pediatrics, 2022
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou D et al.
Brain : a Journal of Neurology, 2021
Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.
Chen Y et al.
Frontiers of Medicine, 2021
Exercise test for patients with new-onset paroxysmal kinesigenic dyskinesia.
Ji F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
Pavone P et al.
Italian Journal of Pediatrics, 2019
[Clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation].
Chen CH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.
Zhao G et al.
The International Journal of Neuroscience, 2018
Thalamocortical dysconnectivity in paroxysmal kinesigenic dyskinesia: Combining functional magnetic resonance imaging and diffusion tensor imaging.
Long Z et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.
Wang Y et al.
Scientific Reports, 2017
Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.
Wang HX et al.
Chinese Medical Journal, 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
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Gardiner AR 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
Episodic and electrical nervous system disorders caused by nonchannel genes.
Lee HY et al.
Annual Review of Physiology, 2015
[Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy].
Yang X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations.
Tan LC et al.
European Journal of Neurology, 2014
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.
Yang X et al.
Bmc Neurology, 2013
Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation.
Wang K et al.
Brain & Development, 2013
PRRT2 mutations and paroxysmal disorders.
Méneret A et al.
European Journal of Neurology, 2013
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
Becker F et al.
Journal of Neurology, 2013
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
Silveira-Moriyama L et al.
Developmental Medicine and Child Neurology, 2013
Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.
Liu XR et al.
Genes, Brain, and Behavior, 2013
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Heron SE et al.
Journal of Medical Genetics, 2013
Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.
Groffen AJ et al.
Journal of Neurology, 2013
PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions.
van Vliet R et al.
Neurology, 2012
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
Méneret A et al.
Neurology, 2012
Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin.
van Strien TW et al.
Parkinsonism & Related Disorders, 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