Publication
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
Heba Morsy, Hyeonho Kim, Gyubin Jang, Maha S. Zaki, Mariasavina Severino, Ibrahim M. Abdelrazek, Haytham Hussien, Eleanor Self, Raidah Saleem Albaradie, Khadijah Bakur, Zahra Firoozfar, Stephanie Efthymiou, Mahmoud M. Noureldeen, Amira Nabil, Javeria Raza Alvi, Fateme Molavi, Shahryar Alavi, Reza Alibakhshi, Vehap Topcu, Hanifenur Mancilar, Eyyup Uctepe, Ahmet Yesilyurt, Hesham Aldhalaan, Ehab Salah Showki Tous, Bader Alhaddad, Hasnaa M. Elbendary, Annarita Scardamaglia, David Murphy, Vicente A. Yépez, Julien Gagneur, Tarek I. Omar, Marwa Abd Elmaksoud, Jana Vandrovocova, Ebtessam Abdalla, Mary M. Reilly, Tipu Sultan, Fowzan S. Alkuraya, Joseph G. Gleeson, Ji Won Um, Henry Houlden, Jaewon Ko, Reza Maroofian
The American Journal of Human Genetics, February 2026, Elsevier
DOI: 10.1016/j.ajhg.2025.12.015