eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | encephalopathy |
| Comorbidity | C0025362|mental retardation |
| Sentences | 3 |
| PubMedID- 24222493 | Background: in untreated patients, phenylketonuria (pku) results in severe encephalopathy with mental retardation. |
| PubMedID- 22436252 | Since glutamate and n-methyl-d-aspartate (nmda) receptors have been implicated in several disorders of the central nervous system including stroke [20] and grin2a and grin2b genes have been recently implicated in encephalopathy with mental retardation and epilepsia [21], we sequenced the grin2c gene encoding the glutamate receptor, ionotropic, n-methyl d-aspartate 2 c. we also sequenced the kcnj16 gene since kcnj2 and kcnj10 have been associated with mental retardation, dysmorphic syndrome and a cns phenotype [22,23]. |
| PubMedID- 26543812 | Topiramate-induced hyperammonemic encephalopathy in a patient with mental retardation: a case report and review of the literature. |
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