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PedAM

Pediatric Disease Annotations & Medicines




Disease encephalopathy
Symptom C0025362|mental retardation
Sentences 4
PubMedID- 25667837 Another study presented a patient with generalized epilepsy with severe mental retardation suggestive of diffuse encephalopathy, with a marked monocular visual deficit of the eye affected by the nystagmus so that a nonepileptic origin of the monocular nystagmus must be suspected 5.
PubMedID- 26543812 Topiramate-induced hyperammonemic encephalopathy in a patient with mental retardation: a case report and review of the literature.
PubMedID- 22436252 Since glutamate and n-methyl-d-aspartate (nmda) receptors have been implicated in several disorders of the central nervous system including stroke and grin2a and grin2b genes have been recently implicated in encephalopathy with mental retardation and epilepsia , 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 .
PubMedID- 24222493 Background: in untreated patients, phenylketonuria (pku) results in severe encephalopathy with mental retardation.

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