Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and electroencephalographic (EEG) features of absence seizures in children were evaluated using EEG frequency modulation radiotelemetry and videotape monitoring. The only seizures evaluated were those with a spike-and-wave or multiple spike-and-wave duration lasting at least 3 seconds. A total of 926 absence seizures (426 typical, 500 atypical) were reviewed in 54 patients. Abnormal interictal EEGs, multiple seizure types, mental retardation, or developmental delay were more likely in patients with atypical absence seizures than in patients with typical absence seizures. Both types of absence seizures usually had a clear onset and cessation. Atypical absence seizures lasted significantly longer than did typical absence seizures. Automatisms occurred more frequently in typical absence seizures than in atypical ones, while decreases in postural tone or tonic activity occurred more frequently in atypical absence seizures. Receptive and expressive speech were retained in some patients during both types of seizures. This study demonstrates that typical and atypical absence seizures are not discrete entities but rather form a continuum. No single clinical feature can adequately distinguish the two seizure types.
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PMID:Absence seizures in children: clinical and electroencephalographic features. 311 45

Glucose transporter type 1 (GLUT1) deficiency is an inborn error of glucose transport. Clinical manifestations are presumed secondary to reduced glucose transport across the blood brain barrier, and include seizures, abnormal tone, developmental delay and hypoglycorrhachia. A high index of suspicion is important as GLUT1 deficiency is a potentially treatable cause of mental retardation. We studied two affected children by continuous video-EEG in order to better understand the cause of the clinical manifestations and improvement on a ketogenic diet. The EEG was characterized by generalized paroxysmal 2-2.5 Hz spike-wave discharges, although normal EEGs were also obtained. Atypical absence seizures were the most prominent clinical seizure. Epileptiform activity and clinical seizures occurred in both children while acutely ketotic and non-ketotic, but were markedly more frequent in one child when non-ketotic. Discharges were not associated with a reduction in substrate for brain metabolism in the blood at that time. Conclusion Atypical absence seizures are common in glucose transporter type 1 deficiency and should alert the clinician to the possibility of this treatable disorder when present in a young child with developmental delay. Our data suggest that the therapeutic mechanism of the ketogenic diet in this disorder is more complicated than simply delivering ketones as an alternative substrate for brain metabolism.
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PMID:Glucose transporter type 1 deficiency: a study of two cases with video-EEG. 1059 74