Prof. Levanon Erez – Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

Prof. Erez Levanon

Abstract 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. Siblings in…

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