Associated Papers
Sleep complaints in individuals with SYNGAP1-associated syndrome.
Mosini AC et al.
Sleep Medicine, 2025
Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders.
Xie W et al.
Molecular Genetics & Genomic Medicine, 2025
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
Wiltrout K et al.
Epilepsia, 2024
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
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
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
31395010 (PubMed )
Supplement: 11689_2019_9276_MOESM1_ESM.xlsx › Sheet1
Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder.
Brimble E et al.
Molecular Syndromology, 2019
Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1.
Okazaki T et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2017
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
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
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