The concept of hereditary impairment of brain maturation.
The classification of benign partial epilepsies and related conditions includes (besides rolandic epilepsy) atypical benign partial epilepsy, bioelectrical status epilepticus (ESES) and a variety of other syndromes. The broad overlap of the clinical and bioelectrical symptomatology might reflect a pathogenetic background common to these epilepsies. In order to understand the great phenotypic variability, the clinical symptomatology in 56 sibships with focal sharp waves of genetic origin was analyzed. A genetic determination was assumed if, in addition to the index case, at least one sibling or offspring revealed typical focal sharp waves. The 56 index-cases and their 61 sib/offspring/parents showed a broad spectrum of epileptic and non-epileptic conditions ranging from mild selective performance deficits to severe complex mental retardation, from neonatal seizures, febrile convulsions, and simple rolandic epilepsy to severe epilepsies with minor seizures or ESES. The different conditions are not disease entities but sets of variably weighted symptoms of a complex pathogenetic background, in which a genetic disposition to focal anomalies of brain function is of decisive importance. As can be demonstrated by the data, this genetic liability coincides with other widespread genetic traits, expressed in certain EEG patterns, as well as with lesional pathogenetic factors. The biological background of the genetic focal anomaly is currently unknown. The marked age dependence of the symptoms justifies the assumption of an hereditary impairment of brain maturation.
Epilepsie-Zentrum, 24223 Raisdorf, Germany.
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Doose
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Neubauer
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Petersen
D000367:Age Factors; D001921:Brain / Q000196:embryology / Q000254:growth & development* / Q000503:physiopathology; D002648:Child; D002657:Child Development; D004569:Electroencephalography / Q000145:classification; D004828:Epilepsies, Partial / Q000145:classification* / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D005260:Female; D015870:Gene Expression; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008959:Models, Neurological; D009679:Nuclear Family; D010641:Phenotype