Caterina Ancora, Marco Marchi, Claudia Maria Bonardi, Geppo Sartori, Raffaele Lopreiato, Daniela Zuccarello, Ignazio D'Errico, Margherita Nosadini, Stefano Sartori, Clementina Boniver, Irene Toldo, Leonardo Salviati
Loss of function of the STRADA gene, an upstream mTOR inhibitor, causes a rare neurodevelopmental disorder characterized by polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE syndrome). Patients display a homogeneous phenotype including early-onset drug-resistant epilepsy, severe psychomotor delay, multisystemic comorbidities, and increased risk of premature death. The administration of sirolimus, an mTOR inhibitor, is helpful in controlling seizures in this syndrome. We report the electroclinical phenotype of two novel patients and the development of a yeast model to validate the pathogenicity of missense variants...
November 2023: Pediatric Neurology