Adult Phenotype of SYNGAP1 -DEE.
Marlene RongTim BenkeQuratulain Zulfiqar AliAngel Aledo-SerranoCarolina AlvarezAlessandra RossiOrrin DevinskyFarah QaiserAnum Sadruddin PidaniAlfonso FasanoAnne S BassettDanielle M AndradePublished in: Neurology. Genetics (2023)
-DEE. Only 50% of adults can ambulate with minimal or no assistance. Almost all adult patients depend on caregivers for many activities of daily living. Prompt diagnostic genetic testing of adults with DEE can inform clinical care and guide outcomes of precision therapies.