The impact of genetics on the classification of epilepsy syndromes.
Recent progress in the genetics of epilepsies may potentially provide important insights into biologic processes underlying epileptogenesis. However, the genetic etiology underlying epilepsy remains largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited. Therefore, at present, classification of epileptic disorders should be mainly based on electroclinical features. In the future, it is likely that the investigation of familial traits will lead to the definition of novel syndromes and that genotype-phenotype correlations in inherited conditions will shed light on the variable expressivity of epileptic disorders. Moreover, the discovery of new epilepsy genes may allow assessment of whether different phenotypes are etiologically linked.
Zara
Federico
F
Department of Neuroscience, Laboratory of Neurogenetics, Institute G. Gaslini, Genova, Italy. federicozara@ospedale-gaslini.ge.it
Bianchi
Amedeo
A
D004827:Epilepsy / Q000145:classification* / Q000235:genetics*; D015870:Gene Expression; D005838:Genotype; D006801:Humans; D010641:Phenotype; D013577:Syndrome