Case report
Open access
Aug 2026
A Novel de Novo WAC Frameshift Variant in DeSanto-Shinawi Syndrome With Temporo-Occipital Epileptiform Activity and Congenital Cardiac Anomalies.
A 9-year-old male patient presenting with developmental delay, behavioral abnormalities, dysmorphic facial features, epilepsy, and congenital cardiac anomalies is reported, highlighting the importance of detailed neurological, electroencephalographic, cardiac, and genetic evaluation in patients with suspected DESSH.
Burak Yavuz, Soner Uzun, Ayhan Kütükçü et al.
· American Journal of Medical... · 0 citations