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

Melanie Brugger, Antonella Lauri, Yan Zhen, Laura L. Gramegna, Benedikt Zott, Nikolina Sekulić, Giulia Fasano, Robert Kopajtich, Viviana Cordeddu, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Graziamaria Paradisi, Giancarlo Paradisi, Ginevra Zanni, Giacomo Zanni, Gessica Vasco, Rosalba Carrozzo, Flavia Palombo, Federica PalomboCaterina Tonon, Raffaele Lodi, Chiara La Morgia, Maria Arelin, Cristiane Blechschmidt, Tom Finck, Vigdis Sørensen, Kornelia Kreiser, Gertrud Strobl-Wildemann, Hagit Daum, Rachel Michaelson-Cohen, Lucia Ziccardi, Giuseppe Zampino, Holger Prokisch, Rami Abou Jamra, Claudio Fiorini, Thomas Arzberger, Juliane Winkelmann, Leonardo Caporali, Valerio Carelli, Harald Stenmark, Marco Tartaglia, Matias Wagner

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Biochemistry, Genetics and Molecular Biology

Neuroscience