A clinical case of SYNGAP1, с2214_2217delTGAG de novo gene mutations in a girl with epilepsy, mental retardation, autism, and movement disorders

The practical introduction of the latest genetic techniques could provide the basis for comorbidity of genetic epilepsies and behavioral disorders with cognitive impairments. This article describes a case of SNGAP1 mutation in an 8-year-old female patient having symptomatic epilepsy with epileptic eyelid myoclonia and atypical absences, atypical autism with mental retardation. A detailed clinical discussion deals with neurological and mental states, logopedic characteristics, and psychological examination findings, as well as video-EEG monitoring data