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
Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen database.
Scott MR et al.
Orphanet Journal of Rare Diseases, 2025
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
Wiltrout K et al.
Epilepsia, 2024
Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome.
Zhao X et al.
Epilepsy & Behavior : E&b, 2024
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.
Ribeiro-Constante J et al.
Frontiers in Cell and Developmental Biology, 2024
[Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review].
Wang XL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene.
Wang Y et al.
Stem Cell Research, 2022
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
Leite AJDC et al.
Plos One, 2022
Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations.
Wang Y et al.
Frontiers in Genetics, 2022
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.
Mayo S et al.
International Journal of Molecular Sciences, 2021
SYNGAP1-DEE: A visual sensitive epilepsy.
Lo Barco T et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2021
Phenotypes in Children With SYNGAP1 Encephalopathy in China.
Zhang H et al.
Frontiers in Neuroscience, 2021
Add-on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy.
Kuchenbuch M et al.
Epilepsia Open, 2020
Twenty Years of SynGAP Research: From Synapses to Cognition.
Gamache TR et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020
Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.
Jimenez-Gomez A et al.
Journal of Neurodevelopmental Disorders, 2019