Associated Papers
Genetic Landscape of Opsoclonus-Myoclonus-Ataxia Syndrome in Children.
Gorman MP et al.
Pediatric Neurology, 2025
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Next-Generation Sequencing Identifies Novel Germline Mutations in Patients with Budd-Chiari Syndrome-Associated Hepatocellular Carcinoma.
Kumar S et al.
Digestive Diseases and Sciences, 2025
Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms.
Kyriakidis I et al.
Pediatric Reports, 2025
Oxcarbazepine may be an effective option for Chinese pediatric patients with self-limited focal epilepsy of neonatal/infantile onset: a retrospective cohort study.
Sun N et al.
Frontiers in Pediatrics, 2025
Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.
Gupta V et al.
International Journal of Molecular Sciences, 2024
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China.
Lai G et al.
Frontiers in Pediatrics, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Genetic Movement Disorders Commonly Seen in Asians.
Jagota P et al.
Movement Disorders Clinical Practice, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Avnat E et al.
Genes, 2023
Clinical and genetic analysis of benign familial infantile epilepsy caused by PRRT2 gene variant.
Gu Y et al.
Frontiers in Neurology, 2023
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 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
PRRT2 variants and effectiveness of various antiepileptic drugs in self-limited familial infantile epilepsy.
Zhao Q et al.
Seizure, 2021
Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures.
Cornet MC et al.
Epilepsia, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 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
Different experiences of two PRRT2-associated self-limited familial infantile epilepsy.
Zhao Q et al.
Acta Neurologica Belgica, 2020
Case Report: Benign Infantile Seizures Temporally Associated With COVID-19.
García-Howard M et al.
Frontiers in Pediatrics, 2020
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Dharmadhikari AV et al.
Genome Medicine, 2019
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.
Rashid M et al.
Nature Communications, 2019
PRRT2-related phenotypes in patients with a 16p11.2 deletion.
Vlaskamp DRM et al.
European Journal of Medical Genetics, 2019
Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa.
Dekker MCJ et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2019
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.
Miao P et al.
Clinical 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
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
Cloarec R et al.
Neurology, 2012
Successful Treatment of a Paroxysmal Kinesigenic Dyskinesia Patient with Carbamazepine-Induced Stevens-Johnson Syndrome Using Oxcarbazepine Monotherapy: A Case Report.
Tran HT et al.
Case Reports in Neurology, 0
Infantile spasms caused by NEXMIF mutation: A case report and literature review.
Zhong L et al.
Applied Neuropsychology. Child, 0