Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

We identified bi-allelic variants in SNF8, encoding a subunit of the ESCRT-II complex, in individuals presenting with a disease spectrum ranging from epileptic encephalopathy to syndromic optic atrophy —findings also present in a zebrafish model. Functional experiments suggest impaired autophagic flux as the disease mechanism.

Source: The American Journal of Human Genetics - February 28, 2024 Category: Genetics & Stem Cells Authors: Melanie Brugger, Antonella Lauri, Yan Zhen, Laura L. Gramegna, Benedikt Zott, Nikolina Sekuli ć, Giulia Fasano, Robert Kopajtich, Viviana Cordeddu, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Graziamaria Paradisi, Ginevra Zanni, Gessica Va Tags: Article Source Type: research