Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P00492 (hypoxanthine-guanine phosphoribosyltransferase)
 2,385 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Correlation of self-mutilation and sleep stage in the Lesch-Nyhan syndrome was studied by a polygraphic method. Five patients and three control boys were monitored with EEG, EOG, EMG, ECG and respiration throughout the night. The results were as follows: 1. The sleep-time of the patients was much disturbed during the night. 2. Decreased REM density was noticed with low DQ of the patients. 3. Self-mutilation during sleep-time was observed a lot in stages 1, 2, and REM in two cases. 4. No correlation was observed between body movement and self-mutilation in the Lesch-Nyhan syndrome. These data suggested functional disorders of the frontal lobe in the patients.
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PMID:Self-mutilation and sleep stage in the Lesch-Nyhan syndrome. 23 25

Sleep EEG patterns in 23 mentally retarded children with cerebral palsy (CP) (from 4 months to 5 years of age) and 39 reference mentally retarded children of no abnormality with the exception of psychomotor retardation (from 4 months to 12 years of age) were studied throughout nocturnal sleep, and the following results were obtained. Eleven CP cases and 30 reference cases evidenced normal sleep patterns that could be classified into 6 stages. Twelve other cases in CP and 9 reference cases showed some abnormal sleep EEG patterns as follows: (i) in CP cases absence of EEG patterns characteristic of wakefulness, NREM sleep and REM sleep without spindles (n = 3); porencephaly with microcephaly (n = 1) and cytomegalovirus infection (n = 2), no characteristic EEG patterns of stages 1-4 without spindles (n = 2); cardiac arrest (n = 1) and agenesis of corpus callosum with lissencephaly (n = 1), absence of REM sleep (n = 1); kernicterus, spindles with an extremely low incidence (n = 5); perinatal anoxia (n = 2), kernicterus (n = 1), Lesch-Nyhan syndrome (n = 1) and cerebral palsy due to unknown etiologies (n = 1), and extreme spindles (n = 1); cerebral palsy due to unknown etiologies, (ii) in reference cases no spindles (n = 2), spindles with an extremely low incidence (n = 6), and extreme spindles (n = 1). Short sleep and long waking times during the night were noted in 4 out of 23 CP subjects; kernicterus (n = 2), agenesis of corpus callosum with lissencephaly (n = 1), and porencephaly with microcephaly (n = 1).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Nocturnal sleep in mentally retarded infants with cerebral palsy. 241 20