12 Mai 2023 – Jean-François Perrier (Université de Copenhague, Danemark) – Understanding the cellular mechanisms responsible for neurodevelopmental encephalopathies – the example of STXBP1 encephalopathies

De novo mutations in Stxbp1 are among the most prevalent causes of neurodevelopmental disorders, and lead to haploinsufficiency, cortical hyperexcitability, epilepsy and other symptoms. Given that Munc18-1, the protein encoded by …  Continue reading →