Abstract:Background and ObjectivesSYNGAP1variants are associated with rare developmental and epileptic encephalopathies (DEEs). AlthoughSYNGAP1-related childhood phenotypes are well characterized, the adult phenotype remains ill-defined. We sought to investigate phenotypes and outcomes in adults withSYNGAP1variants and epilepsy.MethodsPatients 18 years or older with DEE carrying likely pathogenic and pathogenic (LP/P)SYNGAP1variants were recruited through physicians' practices and patient organization groups. We used s… Show more
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