title: Genetic focal epilepsies: state of the art and paths to the future.
abstract: The concept of genetic focal epilepsies is relatively new as compared to awareness of the importance of genetic factors in the generalized epilepsies. However, in the past decade, there has been increasing recognition of families with dominantly inherited partial epilepsies. Better definition of the phenotypes allows identification of distinct syndromes. The main familial focal epilepsies are autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE), familial mesial TLE (FMTLE), familial lateral TLE (FLTLE), and familial partial epilepsy with variable foci (FPEVF). The only genes identified so far are those for ADNFLE and FLTLE. In these disorders, functional studies are the next step and could provide advances leading to clarification of the pathophysiology as well as to new therapeutic strategies. At present, we can provide genetic counseling and a more accurate prognosis for most of the familial focal epilepsies. Greater awareness of the genetic basis in this group of disorders by the treating physicians is essential for identification of new families. This will allow further linkage studies, candidate gene screening, and identification of new genes, which will hopefully result in genetically based prevention and treatment.
authors.affiliation: Montreal Neurological Institute and Hospital McGill University, Montreal, Canada. frederick.andermann@mcgill.ca
authors.forename: Frederick
authors.initials: F
authors.lastname: Andermann
authors.forename: Eliane
authors.initials: E
authors.lastname: Kobayashi
authors.forename: Eva
authors.initials: E
authors.lastname: Andermann
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D004828:Epilepsies, Partial / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D004833:Epilepsy, Temporal Lobe / Q000175:diagnosis / Q000235:genetics; D005192:Family Health; D005260:Female; D007839:Functional Laterality; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype