Topic: cortical malformations

Brain-restricted somatic variants can cause cortical malformations, developmental tumors and other focal epilepsies while escaping routine germline tests. This investigators workshop examines sensitive methods for detecting variants present in only a small fraction of cells. Sessions cover minimally invasive sampling, genomic assays, single-nucleus RNA sequencing and spatial analysis of brain tissue, then connect these approaches to genotype–phenotype relationships and mechanistic studies in human cells and mosaic mouse models. The aim is to improve diagnosis and identify more targeted therape

During histogenesis of the cerebral cortex, a proper laminar placement of defined numbers of specific cellular types is necessary to ensure proper functional connectivity patterns. There is a wide range of cortical malformations causing epilepsy and intellectual disability in humans, characterized with various degrees of neuronal misplacement, aberrant circuit organization or abnormal folding patterns. Although progress in human neurogenetics and brain imaging techniques have considerably advanced the identification of their causative genes, the pathophysiological mechanisms associated with de