eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | melas |
| Comorbidity | C0038220|status epilepticus |
| Sentences | 2 |
| PubMedID- 24225564 | [a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (melas) with treatment-resistant status epilepticus that was effectively treated with lamotrigine]. |
| PubMedID- 25125337 | Here we report on a girl with repeated stroke-like episodes and status epilepticus, who was diagnosed with melas due to a novel mitochondrial cytochrome b gene (mtcyb) mutation (m.15092g>a, which predicts p.g116s). |
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