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Jornal de Pediatria
On-line version ISSN 1678-4782
LOPES-CENDES, Iscia. The genetics of epilepsies. J. Pediatr. (Rio J.) [online]. 2008, vol.84, n.4, suppl., pp. S33-S39. ISSN 1678-4782. http://dx.doi.org/10.1590/S0021-75572008000500006.
OBJECTIVES: To discuss some of the clinical and molecular genetic aspects of new discoveries in the field of the genetics of the epilepsies and relate these with relevant clues for a better understanding of the mechanisms underlying some of the monogenic epilepsy syndromes. SOURCES: Many study designs have been performed over the years and these include family-based studies, genetic-epidemiology surveys. More recently, molecular genetics studies and gene discovery strategies have been used to unravel the molecular and cell mechanisms involved in several Mendelian epilepsy syndromes. SUMMARY OF THE FINDINGS: The importance of genetic factors in the epilepsies has been recognized since the time of Hippocrates. CONCLUSIONS: In the modern era, many studies have demonstrated the existence of an inherited component in the generalized and focal epilepsies and in the last 2 decades a number of families segregating different types of monogenic epilepsy have been described, leading to progresses in the characterization of the molecular defects in these families.
Keywords : Monogenic disorders; channelopathies; seizures.