Article
Modeling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells.
Epileptic disorders : international epilepsy journal with videotape - 1 Jun 2023
Alaverdian Diana, Corradi Anna Margherita, Sterlini Bruno, Benfenati Fabio, Murru Luca, Passafaro Maria, Brunetti Jlenia, Meloni Ilaria, Mari Francesca, Renieri Alessandra, Frullanti Elisa
Abstract excerpt
BACKGROUND: Loss of function mutations in PCDH19 gene causes an X-linked, infant-onset clustering epilepsy, associated with intellectual disability and autistic features. The unique pattern of inheritance includes random X-chromosome inactivation, which leads to pathological tissue mosaicism. Females carrying PCDH19 mutations are affected, while males have a normal phenotype. No cure is presently available for...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.