Associated Papers
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
Clinical and Neuropsychological Phenotyping of Individuals With Somatic Variants in Neurodevelopmental Disorders.
Mo A et al.
Neurology. Genetics, 2025
Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic.
Thomas BR 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
Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.
Atli EI et al.
Internal Medicine Journal, 2022
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
Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.
Zamboni V et al.
International Journal of Molecular Sciences, 2018
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.
Rim JH et al.
Bmc Medical Genomics, 2018
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
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.
Volk A et al.
Molecular Syndromology, 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
Emerging major synaptic signaling pathways involved in intellectual disability.
Pavlowsky A et al.
Molecular Psychiatry, 2012
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
Hamdan FF et al.
Biological Psychiatry, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
Hamdan FF et al.
American Journal of Human Genetics, 2011
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
Hamdan FF et al.
The New England Journal of Medicine, 2009
Roadmap to advance therapeutics for SYNGAP1-related disorder: a patient organization perspective from SynGAP Research Fund.
Graglia JM et al.
Therapeutic Advances in Rare Disease, 0