De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
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DOI: 10.1212/nxg.0000000000000258
Abstract: Catastrophic epileptic encephalopathy of unclear etiology following a mild metabolic insult generally has a poor outcome. Here, we present 2 such unrelated individuals in whom whole-exome sequencing identified the same de novo recurrent mutation (c.1207C>T… read more here.
Keywords: dnm1l mutation; mutation; novo dnm1l; mutation associated ... See more keywords