Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids.

ABSTRACT: PCDH19 clustering epilepsy (PCDH19-CE) is a genetic disease characterized by a heterogeneous phenotypic spectrum ranging from focal epilepsy with rare seizures and normal cognitive development to severe drug-resistant epilepsy associated with intellectual disability and autism. Unfortunately, little is known about the pathogenic mechanism underlying this disease and an effective treatment is lacking. Studies with zebrafish and murine models have provided insights on the function of PCDH19 during brain development and how its altered function causes the disease, but these models fail to reproduce the human phenotype. Induced pluripotent stem cell (iPSC) technology has provided a complementary experimental approach for investigating the pathogenic mechanisms implicated in PCDH19-CE during ne

SUBMITTER: Borghi R 

PROVIDER: S-EPMC8998847 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature