Adult Phenotype of SYNGAP1 -DEE

Abstract excerpt

Background and Objectives SYNGAP1 variants are associated with rare developmental and epileptic encephalopathies (DEEs). Although SYNGAP1-related childhood phenotypes are well characterized, the adult phenotype remains ill-defined. We sought to investigate phenotypes and outcomes in adults with SYNGAP1 variants and epilepsy. Methods Patients 18 years or older with DEE carrying likely pathogenic and pathogenic...

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