Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0027066 (
myoclonus
)
4,275
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Here, we report a male child with Schinzel-
Giedion syndrome
associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic
myoclonus
of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-
Giedion syndrome
may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.
...
PMID:Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. 2150 89
