Associated Papers
A Comprehensive Perspective on Febrile Seizures in Children: A Prospective Cohort Study with Evaluation of Clinical, Laboratory, and Genetic Features.
Yalçın G et al.
Journal of Clinical Medicine, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Clinical application of whole-exome sequencing analysis in childhood epilepsy.
Gavaz M et al.
Journal of Neurogenetics, 2024
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Marques P et al.
Epilepsy Research, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D et al.
Epilepsia, 2024
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H et al.
Brain : a Journal of Neurology, 2023
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
Mainali A et al.
American Journal of Medical Genetics. Part A, 2023
The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.
Ko YJ et al.
Journal of Epilepsy Research, 2021
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Balestrini S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
Lee J et al.
Molecular Genetics & Genomic Medicine, 2020
Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing.
Lee J et al.
Annals of Clinical and Laboratory Science, 2020
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.
Do TT et al.
Journal of Clinical Neurology (seoul, Korea), 2017
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.
Xu X et al.
Human Mutation, 2015
Lamotrigine can be beneficial in patients with Dravet syndrome.
Dalic L et al.
Developmental Medicine and Child Neurology, 2015
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
Catarino CB et al.
Brain : a Journal of Neurology, 2011