Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have studied an 8-year-old girl with ornithine transcarbamylase deficiency with many of the manifestations of Rett syndrome. She is profoundly mentally retarded and microcephalic after normal development in early childhood. Seizures, hyperventilation, ataxia, amimia, and "hand wringing" stereotypies are present. The distinguishing characteristic is the history of recurrent episodes of vomiting and hyperammonemic coma. This case points to the possible existence of genocopies of Rett syndrome.
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PMID:A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations. 308 94

Rolandic mu rhythm is usually limited to brief stretches of 0.5 to 2 sec duration. Two observations of status-like enhancement of mu rhythm have prompted this report. In both cases, 4-hour EEG-Video-Monitoring was used. Clinically, the reported cases differed considerably. Case 1 showed nearly continuous mu activity associated with general motionlessness: akinesia/amimia but without rigidity, caused by frontal lobe impairment due to multiple sclerosis. In Case 2, an impressive mu-status started in drowsiness and was presumably attributable to levitiracetam (which had rendered seizure-free the patient's formerly severe case of temporal lobe epilepsy). Mu rhythm status, thus far, is an unknown EEG entity. It can be caused by impaired fronto-motor input and may also constitute a medication-effect (levitiracetam).
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PMID:"Mu rhythm status" and clinical correlates. 1516 15