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
Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study.
Qiao Y et al.
Genes & Diseases, 2025
Sleep complaints in individuals with SYNGAP1-associated syndrome.
Mosini AC et al.
Sleep Medicine, 2025
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
Wiltrout K et al.
Epilepsia, 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
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
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Aguilera C et al.
Plos One, 2021
Phenotypes in Children With SYNGAP1 Encephalopathy in China.
Zhang H et al.
Frontiers in Neuroscience, 2021
Identification of an individual with a SYGNAP1 pathogenic mutation in India.
Verma V et al.
Molecular Biology Reports, 2020
[A case with autosomal dominant mental retardation type 5 due to de novo SYNGAP1 variant].
Gao Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior.
Creson TK et al.
Elife, 2019
SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.
Michaelson SD et al.
Nature Neuroscience, 2018
Epileptic and neurodevelopmental encephalopathy associated to SYNGAP1 mutation: Description of a case and treatment response to cannabidiol.
López-Moreno Y et al.
Neurologia, 0
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