Associated Papers
Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.
Mancuso G et al.
International Journal of Molecular Sciences, 2026
Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self-limited infantile epilepsy by trios whole-exome sequencing.
Sun Y et al.
Epilepsia Open, 2025
PRRT 2-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes.
Komar M et al.
Neurology. Genetics, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms.
Kyriakidis I et al.
Pediatric Reports, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.
Yarali O et al.
Journal of Neurogenetics, 2024
Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal.
Scorrano G et al.
Seizure, 2024
A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high-throughput detection of PRRT2 gene c.649 locus.
Wen M et al.
Molecular Genetics & Genomic Medicine, 2024
Genetics of migraine: complexity, implications, and potential clinical applications.
Sutherland HG et al.
The Lancet. Neurology, 2024
Genetic and phenotypic analyses of PRRT2 positive and negative paroxysmal kinesigenic dyskinesia.
Zhang Y et al.
Therapeutic Advances in Neurological Disorders, 2024
A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression.
Zhang L et al.
Case Reports in Pediatrics, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
Three siblings with self-limited familial infantile epilepsy with PRRT2 mutation: A case series.
Iwanami N et al.
Sage Open Medical Case Reports, 2024
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits.
Hatta D et al.
Journal of Biochemistry, 2023
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy.
Fearn N et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2023
Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch.
Dzinovic I et al.
Movement Disorders Clinical Practice, 2023
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Avnat E et al.
Genes, 2023
The Pathogenesis of Paroxysmal Kinesigenic Dyskinesia: Current Concepts.
Li ZY et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
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
Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.
Liu X et al.
Journal of Neurology, 2022
Clinical exome sequencing-Mistakes and caveats.
Corominas J et al.
Human Mutation, 2022
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a 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
Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants.
Chen YL et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.
Riant F et al.
Neurology, 2022
Case Report: Next-Generation Sequencing-Based Detection in A Patient with Three Synchronous Primary Tumors.
Wu T et al.
Frontiers in Oncology, 2022
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
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 Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children.
Luo HY et al.
Frontiers in Pediatrics, 2021
Case Report: Long-Term Suppression of Paroxysmal Kinesigenic Dyskinesia After Bilateral Thalamotomy.
Murakami M et al.
Frontiers in Neurology, 2021
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.
Yao R et al.
Frontiers in Genetics, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.
Calame DJ et al.
Neuroscience, 2020
Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.
Sutherland HG et al.
Cells, 2020
Different experiences of two PRRT2-associated self-limited familial infantile epilepsy.
Zhao Q et al.
Acta Neurologica Belgica, 2020
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
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.
Baldi S et al.
Behavioural Neurology, 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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Advances in genetics of migraine.
Sutherland HG et al.
The Journal of Headache and Pain, 2019
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.
Rashid M et al.
Nature Communications, 2019