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
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Atomistic simulations reveal impacts of missense mutations on the structure and function of SynGAP1.
Ali AE et al.
Briefings in Bioinformatics, 2024
Broadening the scope of multigene panel analysis for adult epilepsy patients.
Lee S et al.
Epilepsia Open, 2024
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
Wiltrout K et al.
Epilepsia, 2024
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
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
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM et al.
Neurology, 2019
Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.
Kimura Y et al.
Congenital Anomalies, 2018
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
Mignot C et al.
Journal of Medical Genetics, 2016
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
Parker MJ et al.
American Journal of Medical Genetics. Part A, 2015
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL et al.
Nature Genetics, 2013
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Berryer MH et al.
Human Mutation, 2013