PedAM
Pediatric Disease Annotations & Medicines
| Disease | epilepsy |
| Phenotype | C0035078|renal failure |
| Sentences | 2 |
| PubMedID- 23659519 | Aims: mutations in the scarb2 gene cause a rare autosomal recessive disease, progressive myoclonus epilepsy (pme) with or without renal failure, the former also being designated action myoclonus-renal failure syndrome. |
| PubMedID- 25342054 | Case report: we report the case of a 55-year-old female on haemodialysis due to chronic renal failure, with epilepsy secondary to a residual lesion in the right frontoparietal area due to a haematoma that required surgical evacuation. |
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