Vladimir S. Fonov

Aug 21, 2024 | nature.com | Emily Banks |Sheng-Jia Lin |Vladimir S. Fonov |Maxime Lévesque |Armin Bayati |Fowzan S. Alkuraya | +28 more

AbstractDevelopmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a membrane trafficking protein, and develop animal models with phenotypes like the human syndrome.