Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient's clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491363 | PMC |
| http://dx.doi.org/10.1007/s11011-014-9645-x | DOI Listing |
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