Advances on the genetics of mendelian idiopathic epilepsies.
Genetic factors play an increasingly recognized role in idiopathic epilepsies. Since 1995, positional cloning strategies in multi-generational families with autosomal dominant transmission have revealed 11 genes (KCNQ2, KCNQ3, CHRNA4, CHRNA2, CHRNB2, SCN1B, SCN1A, SCN2A, GABRG2, GABRA1, and LGI1) and numerous loci for febrile seizures and epilepsies. To date, all genes with the exception of LGI1 (leucine-rich glioma inactivated 1), encode neuronal ion channel or neurotransmitter receptor subunits. Molecular approaches have revealed great genetic heterogeneity, with the vast majority of genes remaining to be identified. One of the major challenges is now to understand phenotype-genotype correlations. This review focuses on the current knowledge on the molecular basis of these rare Mendelian autosomal dominant forms of idiopathic epilepsies.
UPMC/Inserm, UMR_S975, Cricm, F-75013, Bâtiment Pharmacie, Hôpital de la Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France. Electronic address: stephanie.baulac@upmc.fr.
Stéphanie
S
Baulac
UPMC/Inserm, UMR_S975, Cricm, F-75013, Bâtiment Pharmacie, Hôpital de la Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France; Center for Epilepsy, AP-HP, Bâtiment Paul Casteigne Hôpital de la Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France.
Michel
M
Baulac
D000293:Adolescent; D002648:Child; D004827:Epilepsy / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007473:Ion Channels / Q000235:genetics; D017981:Receptors, Neurotransmitter / Q000235:genetics
D007473:Ion Channels; D017981:Receptors, Neurotransmitter