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)

In this series of one hundred and twenty-eight adults with Down's syndrome nearly half (i.e. 42.2 per cent) developed a normal EEG. This would appear to bear out the findings of Gregoziades and Pampiglione (1966) that older children with this syndrome tended to have tracings similar to the normal child. The youngest age group of fifteen to twenty-four years developed a normal tracing in 38.9 per cent of cases. The most frequent abnormality was an excess of theta, in keeping with the suggestion of Godinova and Hirai and Izawa that this was due to immaturity. Neither the presence of congenital heart disease nor diabetes nor intercurrent illness appeared to have any effect on the development of seizures. Epilepsy developed at any time during adult life but, not surprisingly, the five cases developing it had shown sharp or paroxysmal activity previously. Two had suffered from fainting attacks. In one, the diagnosis was confirmed later by a typical grand mal seizure and the other by response to anticonvulsants. Neither suffered from congenital heart disease.
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PMID:The EEG and incidence of epilepsy in Down's syndrome. 15 92

A 15-year-old boy with 18 q-syndrome manifesting a status epilepticus is reported. He has been already diagnosed as epilepsy because of grand mal seizures at six months earlier, and abnormal EEG findings. Unilateral status epilepticus developed at 15 years of age, which were characterized by alternative repetition of horizontal nystagmus to the right and clonic convulsion of the right (mainly upper) extremities every several minutes. Ictal EEG showed continuous 2 Hz high voltage slow waves superimposed by spikes and polyspikes which transformed to localized, irregular spike discharges in the left occipital region at the end of the status. The chromosomal study revealed a partial deletion of the long arm of No. 18. He had severe mental retardation, and a typical karyotype for 18 q-syndrome with reduced prominence of the midface region, short stature and whorls on all finger tips. The immaturity of the brain probably relates to this kind of unilateral status epilepticus.
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PMID:[A case of 18 q-syndrome associated with status epilepticus]. 280

Benign neonatal familial convulsions comprise a distinct epileptic syndrome with an autosomal mode of transmission. The electroclinical signs of seizures in this syndrome are not yet well defined. In 3 children from two families presenting with benign neonatal familial convulsions, 14 seizures were recorded during electroencephalographic (EEG)-video sessions. All seizures occurred during sleep, after a short arousal reaction. Seizures started with bilateral, symmetrical flattening of the EEG for 5 to 19 seconds; simultaneously there was apnea and tonic motor activity. The EEG flattening was followed by a long (1-2-minute) bilateral discharge of spikes and sharp waves; simultaneously, there were vocalizations, chewing, and focal or generalized clonic activity. The prominence of EEG and motor abnormalities varied between the left and the right from one seizure to the next in any given child. The seizures stopped without EEG or clinical postictal depression. These electroclinical observations suggest that the convulsions of benign neonatal familial convulsions are a form of generalized tonic-clonic seizure whose expression may be asymmetrical, probably because of the immaturity of the corpus callosum or other structures ensuring seizure synchronization.
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PMID:Electroclinical signs of benign neonatal familial convulsions. 825 May 33