Associated Papers
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
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
26079862 (PubMed )
Supplement: AJMG-167-2231-s002.xls › Table_1
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Berryer MH et al.
Human Mutation, 2013
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
Hamdan FF et al.
Biological Psychiatry, 2011
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