Article
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain : a journal of neurology - 1 Mar 2016
Byrne Susan, Jansen Lara, U-King-Im Jean-Marie, Siddiqui Ata, Lidov Hart G W, Bodi Istvan, Smith Luke, Mein Rachael, Cullup Thomas, Dionisi-Vici Carlo, Al-Gazali Lihadh, Al-Owain Mohammed, Bruwer Zandre, Al Thihli Khalid, El-Garhy Rana, Flanigan Kevin M, Manickam Kandamurugu, Zmuda Erik, Banks Wesley, Gershoni-Baruch Ruth, Mandel Hanna, Dagan Efrat, Raas-Rothschild Annick, Barash Hila, Filloux Francis, Creel Donnell, Harris Michael, Hamosh Ada, Kölker Stefan, Ebrahimi-Fakhari Darius, Hoffmann Georg F, Manchester David, Boyer Philip J, Manzur Adnan Y, Lourenco Charles Marques, Pilz Daniela T, Kamath Arveen, Prabhakar Prab, Rao Vamshi K, Rogers R Curtis, Ryan Monique M, Brown Natasha J, McLean Catriona A, Said Edith, Schara Ulrike, Stein Anja, Sewry Caroline, Travan Laura, Wijburg Frits A, Zenker Martin, Mohammed Shehla, Fanto Manolis, Gautel Mathias, Jungbluth Heinz
Abstract excerpt
Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different EPG5 mutations, most of them truncating and predicted to result in...
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