Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells.

Diana A AlaverdianAnna Margherita CorradiBruno SterliniFabio BenfenatiLuca MurruMaria PassafaroJlenia BrunettiIlaria MeloniFrancesca MariAlessandra RenieriElisa Frullanti

Published in: Epileptic disorders : international epilepsy journal with videotape (2023)

Our findings provide evidence that PCDH19 c.2133delG mutation affects proper metaphases with increased numbers of centrosomes in stem cells and accelerates neuronal maturation in premature cells. PCDH19 mosaic neurons showed an elevated excitability, representing the situation in PCDH19-CE brain. We suggest an Ngn-2 hiPSC-derived PCDH19 neurons as an informative experimental tool for understanding the pathogenesis of PCDH19-CE and a suitable approach for use in targeted drug screening strategies.

Keyphrases

stem cells
induced pluripotent stem cells
spinal cord
induced apoptosis
emergency department
single cell
rna seq
oxidative stress
energy transfer
working memory