Article
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
American journal of human genetics - 7 Mar 2024
Brugger Melanie, Lauri Antonella, Zhen Yan, Gramegna Laura L, Zott Benedikt, Sekulić Nikolina, Fasano Giulia, Kopajtich Robert, Cordeddu Viviana, Radio Francesca Clementina, Mancini Cecilia, Pizzi Simone, Paradisi Graziamaria, Zanni Ginevra, Vasco Gessica, Carrozzo Rosalba, Palombo Flavia, Tonon Caterina, Lodi Raffaele, La Morgia Chiara, Arelin Maria, Blechschmidt Cristiane, Finck Tom, Sørensen Vigdis, Kreiser Kornelia, Strobl-Wildemann Gertrud, Daum Hagit, Michaelson-Cohen Rachel, Ziccardi Lucia, Zampino Giuseppe, Prokisch Holger, Abou Jamra Rami, Fiorini Claudio, Arzberger Thomas, Winkelmann Juliane, Caporali Leonardo, Carelli Valerio, Stenmark Harald, Tartaglia Marco, Wagner Matias
Abstract excerpt
The endosomal sorting complex required for transport (ESCRT) machinery is essential for membrane remodeling and autophagy and it comprises three multi-subunit complexes (ESCRT I-III). We report nine individuals from six families presenting with a spectrum of neurodevelopmental/neurodegenerative features caused by bi-allelic variants in SNF8 (GenBank: NM_007241.4), encoding the ESCRT-II subunit SNF8. The...
Topics
- Animals
- Humans
- Child
- Zebrafish
- Optic Atrophy
- Epilepsy, Generalized