Associated Papers
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
LaFlamme CW et al.
Epilepsia, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Characteristic spatial and frequency distribution of mutations in SCN1A.
Zhang M et al.
Acta Epileptologica, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
SCN1A-Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience.
Stawicka E et al.
Current Issues in Molecular Biology, 2024
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Scheffer IE et al.
Developmental Medicine and Child Neurology, 2023
Exploring the genetic landscape of diphtheria, tetanus and pertussis vaccination-associated seizures or subsequent epilepsies.
Negi S et al.
The Lancet Regional Health. Southeast Asia, 2023
Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort.
Riza AL et al.
Genes, 2022
Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.
Akbar F et al.
Epilepsy & Behavior Reports, 2022
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou D et al.
Brain : a Journal of Neurology, 2021
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
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
Utility of clinical exome sequencing in a complex Emirati pediatric cohort.
Mahfouz NA et al.
Computational and Structural Biotechnology Journal, 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
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations.
Cho MJ et al.
Journal of Clinical Neurology (seoul, Korea), 2018
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Djémié T et al.
Molecular Genetics & Genomic Medicine, 2016
First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.
Avdjieva-Tzavella DM et al.
Genetic Counseling (geneva, Switzerland), 2014
Effect of vagus nerve stimulation in an adult patient with Dravet syndrome: contribution to sudden unexpected death in epilepsy risk reduction?.
Spatola M et al.
European Neurology, 2013
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
Catarino CB et al.
Brain : a Journal of Neurology, 2011
One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.
Yordanova I et al.
Neuroscience Letters, 2011
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
Sun H et al.
Journal of Human Genetics, 2010
The SCN1A variant database: a novel research and diagnostic tool.
Claes LR et al.
Human Mutation, 2009
BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.
Avdjieva-Tzavella DM et al.
Genetic Counseling (geneva, Switzerland), 0