Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis
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DOI: 10.1016/j.braindev.2020.12.017
Abstract: BACKGROUND Pathogenic variants in the dynamin 1 like gene are related to abnormal mitochondrial dynamics and distributions and are associated to variable clinical phenotypes. A few patients harboring the p.Arg403Cys missense variant appears to be… read more here.
Keywords: focal status; diagnosis; status acute; differential diagnosis ... See more keywords