Abnormal cell sorting and altered early neurogenesis in a human cortical organoid model of Protocadherin-19 clustering epilepsy

Abnormal cell sorting and altered early neurogenesis in a human cortical organoid model of Protocadherin-19 clustering epilepsy

IntroductionProtocadherin-19 (PCDH19)-Clustering Epilepsy (PCE) is a developmental and epileptic encephalopathy caused by loss-of-function variants of the PCDH19 gene on the X-chromosome. PCE affects females and mosaic males while male carriers are largely spared. Mosaic expression of the cell adhes...

Full description

Bibliographic Details
Main Authors: Wei Niu, Lu Deng, Sandra P. Mojica-Perez, Andrew M. Tidball, Roksolana Sudyk, Kyle Stokes, Jack M. Parent
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Cellular Neuroscience
Subjects:
PCDH19-clustering epilepsy
neurodevelopment
CRISPR/CAS9 genome editing
brain organoid
mosaicism
random X-chromosome inactivation
Online Access:https://www.frontiersin.org/articles/10.3389/fncel.2024.1339345/full

Internet

https://www.frontiersin.org/articles/10.3389/fncel.2024.1339345/full

Similar Items