Scientific Article 🇬🇧 Mentions KS

The Angelman Mimic: Navigating Diagnostic Uncertainty in a Genetically Diverse Landscape

person Safiye Gunes Sager, Omar Alomari, Oguzhan Demir, Merve Akcay, Ogun Bebek, Metin Eser, Ayberk Turkyilmaz, Alper Han Cebi, Ali Cansu; Research Square

calendar_today Sep 29, 2026

Preprint study of 39 children with Angelman syndrome or Angelman-like features found overlapping symptoms across diagnosed, AS-like, and unsolved groups. Genetic testing identified UBE3A-related Angelman cases and variants in other genes in AS-like cases, supporting comprehensive genetic testing for accurate diagnosis.