Article
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Brain : a journal of neurology - 1 Dec 2019
Esposito Alessandro, Falace Antonio, Wagner Matias, Gal Moran, Mei Davide, Conti Valerio, Pisano Tiziana, Aprile Davide, Cerullo Maria Sabina, De Fusco Antonio, Giovedì Silvia, Seibt Annette, Magen Daniella, Polster Tilman, Eran Ayelet, Stenton Sarah L, Fiorillo Chiara, Ravid Sarit, Mayatepek Ertan, Hafner Hava, Wortmann Saskia, Levanon Erez Y, Marini Carla, Mandel Hanna, Benfenati Fabio, Distelmaier Felix, Fassio Anna, Guerrini Renzo
Abstract excerpt
Ohtahara syndrome, early infantile epileptic encephalopathy with a suppression burst EEG pattern, is an aetiologically heterogeneous condition starting in the first weeks or months of life with intractable seizures and profound developmental disability. Using whole exome sequencing, we identified biallelic DMXL2 mutations in three sibling pairs with Ohtahara syndrome, belonging to three unrelated families....
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