Both gain‐of‐function and loss‐of‐function de novo CACNA 1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome

Abstract excerpt

Abstract Objective Developmental epileptic encephalopathies ( DEE s) are genetically heterogeneous severe childhood‐onset epilepsies with developmental delay or cognitive deficits. In this study, we explored the pathogenic mechanisms of DEE ‐associated de novo mutations in the CACNA 1A gene. Methods We studied the functional impact of four de novo DEE ‐associated CACNA 1A mutations, including the previously...