Molecular characterization of the heterozygous loss of function mutations in the X-linked PCDH19 gene causing PCDH19-Cluster Epilepsy
Shivang Khandelwal, Ela Elyada, Reut Japha, Manar Abu Diab, Anurag Prabhu, Zahava Siegfried, Rotem Karni
The paper investigates PCDH19-Cluster Epilepsy by generating mouse and human models, identifying differentially expressed genes and morphological changes linked to PCDH19 mutations.
bioRxiv · Mar 18, 2026 · PreprintGenetics