Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three children, two females and one male, born from unrelated parents show brachycephaly, ogival palate, blindness from 5-6 months and progressive piramidal symptoms. Two subjects had since sixth monthy epileptic seizures, the other one died at 5 th month. In one subject died at 28 month age, central nervous system autoptic examination shows neuronal cortical immaturity, lack of corpus callosum, visual and piramidal patways hypoplasia. The serial EEG recording shows three caracteristic aspects: a) altough a marked changes, the organization of the electric cerebral activity was partially preserved; b) a epileptogenic potentiality was present, that is caracteristic of electro-clinic immage of this subject; c) a suggestive and peculiar tendency to asincrony and asimmetry of epileptic tendency in two hemispheres.
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PMID:[Serial electroencephalographic study of 3 siblings with agenesis of the interhemispheric great commissurae, cortical neuronal immaturity and hypoplasia of the optico-pyramidal tracts]. 121 82