eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | encephalopathy |
| Comorbidity | C1096063|intractable epilepsy |
| Sentences | 3 |
| PubMedID- 21357833 | Results: seven patients had polg1 mutations, and all of them had severe encephalopathy with intractable epilepsy. |
| PubMedID- 19780792 | Purpose: mutations of the x-linked gene cyclin-dependent kinase-like 5 (cdkl5) cause an x-linked encephalopathy with early onset intractable epilepsy, including infantile spasms and other seizure types, and a rett syndrome (rtt)-like phenotype. |
| PubMedID- 20083416 | Galloway-mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. |
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