GeneticsbioRxivPreprint
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…·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.