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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… Click to show full 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 p.Arg403Cys) in the gene encoding the guanosine triphosphatase (GTPase) Dynamin-1 like Protein (DNM1L) (reference sequence NM_012062.4).
Keywords:
dnm1l mutation;
mutation;
novo dnm1l;
mutation associated;
mitochondrial epilepsy;
associated mitochondrial
Journal Title: Neurology: Genetics
Year Published: 2018
Link to full text (if available)
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Journal Title: Neurology: Genetics
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!