Fowzan S. Alkuraya

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.

Aug 7, 2023 | nature.com | Jeroen van Reeuwijk |Nicole de Leeuw |Elke de Boer |Charlotte W. Ockeloen |David A. Koolen |Philippe M Campeau | +9 more

Author notesThese authors contributed equally: Lisenka E. L. M. Vissers, Bert B. A. de Vries. Authors and AffiliationsDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the NetherlandsAlexander J. M. Dingemans, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J. Diets, Elke de Boer, Jet Coenen-van der Spek, Bregje W. van Bon, Noraly Jonis, Charlotte W.

Jul 11, 2023 | nature.com | Carolina Gracia-Diaz |Qian Yang |Natalia Padilla |Elisa A. Waxman |Dong Li |Paul Mark | +14 more

AbstractGenetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex.

Jun 21, 2023 | nature.com | Stephanie Valence |Fowzan S. Alkuraya |Enrico Bertini |Elise Brischoux-Boucher |Ange-Line Bruel |Alfredo Brusco | +27 more

AbstractBRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations.