Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants.
Martorell L et al.
Movement Disorders Clinical Practice, 2022
Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.
Riant F et al.
Neurology, 2022
Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.
Liu M et al.
Frontiers in Pediatrics, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Jiang T et al.
Frontiers in Molecular Neuroscience, 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
Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.
Zhao SY et al.
Cns Neuroscience & Therapeutics, 2020
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.
Okumura A et al.
Seizure, 2019
PRRT2 missense mutations cluster near C-terminus and frequently lead to protein mislocalization.
Tsai MH et al.
Epilepsia, 2019
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies.
El Achkar CM et al.
Epilepsy & Behavior Case Reports, 2019
Paroxysmal Dyskinesia in Children: from Genes to the Clinic.
Kim SY et al.
Journal of Clinical Neurology (seoul, Korea), 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M 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
Functions of Fibroblast Growth Factor Receptors in cancer defined by novel translocations and mutations.
Gallo LH et al.
Cytokine & Growth Factor Reviews, 2015
Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
Delcourt M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Genetic variations of VEGF gene were associated with tetralogy of fallot risk in a Chinese Han population.
Yan L et al.
Genetic Testing and Molecular Biomarkers, 2015
PRRT2 mutations and paroxysmal disorders.
Méneret A et al.
European 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
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Heron SE et al.
Journal of Medical Genetics, 2013
Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.
Hedera P et al.
Bmc Neurology, 2012
Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.
Friedman J et al.
Neurology, 2012
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.
Liu Q et al.
Journal of Medical 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