Topic: epileptic susceptibility

Neuronal apoptosis is a mechanism used to clear the cells of oxidative stress or DNA damage and to refine the final number of neurons for a functional neuronal circuit. The tumour suppressor protein p53 is a key regulator of the cell cycle and serves as a checkpoint for eliminating neurons with high DNA damage, aberrant hyperproliferative signals or cellular stress. Meanwhile p53 is largely expressed in progenitors’ cells during development, in adult mice p53 expression is restricted to the neurogenic niches where it regulates cell proliferation and self-renewal. To investigate the functional

Mutations in the X-chromosome gene PCDH19 cause Developmental and Epileptic Encephalopathy-9 (DEE9), a rare neurodevelopmental disorder characterized by epilepsy, autism spectrum disorder and cognitive impairment. DEE9 is characterized by a peculiar gender preference, affecting mainly heterozygous females.Recently, it was found that in vivo mosaic expression of Pcdh19 impairs the maturation and migration of neurons and the GABAergic circuitry, leading to defects of excitation/inhibition (E/I) balance. Since the GABAergic parvalbumin interneurons (PVIs) are powerful regulators of pyramidal neu