Article
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.
American journal of human genetics - 5 Feb 2026
Morsy Heba, Kim Hyeonho, Jang Gyubin, Zaki Maha S, Severino Mariasavina, Abdelrazek Ibrahim M, Hussien Haytham, Self Eleanor, Albaradie Raidah Saleem, Bakur Khadijah, Firoozfar Zahra, Efthymiou Stephanie, Noureldeen Mahmoud M, Nabil Amira, Alvi Javeria Raza, Molavi Fateme, Alavi Shahryar, Alibakhshi Reza, Topcu Vehap, Mancilar Hanifenur, Uctepe Eyyup, Yesilyurt Ahmet, Aldhalaan Hesham, Showki Tous Ehab Salah, Alhaddad Bader, Elbendary Hasnaa M, Scardamaglia Annarita, Murphy David, Yépez Vicente A, Gagneur Julien, Omar Tarek I, Abd Elmaksoud Marwa, Vandrovocova Jana, Abdalla Ebtessam, Reilly Mary M, Sultan Tipu, Alkuraya Fowzan S, Gleeson Joseph G, Um Ji Won, Houlden Henry, Ko Jaewon, Maroofian Reza
Abstract excerpt
MDGA2 encodes a membrane-associated protein that is critical for regulating glutamatergic synapse development, modulating neuroligins (Nlgns), and maintaining excitatory-inhibitory synaptic balance. While MDGA2 functions have been extensively studied in murine and cellular models, its association with human developmental disorders has yet to be established. Through exome sequencing, we identified seven distinct...
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