The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

Abstract excerpt

PURPOSE: Genetic diagnostics of neurodevelopmental disorders with epilepsy (NDDE) are predominantly applied in children, thus limited information is available regarding adults or elderly. METHODS: = 24). RESULTS: We identified (likely) pathogenic variants in 71 cases (47.3%) comprising fragile X syndrome (n = 1), disease-causing copy number (n = 23), and single-nucleotide variants (n = 49). Seven individuals...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Epilepsy research and treatment
• Share to Genetics and Neurodevelopmental Disorders
• Share to Genomics and Rare Diseases