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VON STULPNAGE C.

Last name: VON STULPNAGE C.

2016 (v1)

Publication

Metadata-only

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Mignot C. von Stulpnage C. Nava C.

Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations. Methods We sequenced the exome or screened the exons of SYNGAP1 in a total of 251 patients with neurodevelopmental disorders. Molecular and clinical data from patients with SYNGAP1 mutations from...

Uploaded on: April 14, 2023