Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy.

ABSTRACT: Early infantile developmental and epileptic encephalopathies are devastating conditions, generally of genetic origin, but the pathological mechanisms often remain obscure. A major obstacle in this field of research is the difficulty of studying cortical brain development in humans, at the relevant time period in utero. To address this, we established an in vitro assay to study the impact of gene variants on the developing human brain by using living organotypic cultures of the human subplate and neighbouring cortical regions, prepared from ethically sourced, 14-17 post-conception week brain tissue (www.hdbr.org). We were able to maintain cultures for several months, during which time the gross anatomical structures of the cortical plate, subplate and marginal zone persisted, while neurons

SUBMITTER: McLeod F 

PROVIDER: S-EPMC9976961 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature