Elisabetta Gibellato, Paola Cianci, Milena Mariani, Barbara Parma, Sylvia Huisman, Robert Śmigiel, Anne-Marie Bisgaard, Valentina Massa, Cristina Gervasini, Alex Moretti, Alessandro Cattoni, Andrea Biondi, Angelo Selicorni
SMC1A epilepsy syndrome or developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85, OMIM #301044) is an X-linked neurologic disorder associated with mutations of the SMC1A gene, which is also responsible for about 5% of patients affected by Cornelia de Lange syndrome spectrum (CdLS). Only described in female patients, SMC1A epilepsy syndrome is characterized by the onset of severe refractory epileptic seizures in the first year of life, global developmental delay, a variable degree of intellectual disability, and dysmorphic facial features not typical of CdLS...
February 29, 2024: American Journal of Medical Genetics. Part A