Dominant partial epilepsies - A clinical, electrophysiological and geneticstudy of 19 European families

Nineteen families with autosomal dominant partial epilepsy were analysed cl inically and electrophysiologically in detail. Seventy-one patients were st udied as well as 33 non-epileptic at-risk family members, We subdivided the families into those with autosomal dominant nocturnal frontal lobe epileps y (ADNFLE) (n = 8), familial temporal lobe epilepsy (n = 7) and autosomal d ominant partial epilepsy with variable foci (n = 4), However, the applicati on of this nosology to certain families was difficult in cases of non-speci fic or conflicting clinical and electrophysiological evidence. This was und erscored by the observation by depth electrode recordings in one patient th at a so-called ADNFLE may originate in an extrafrontal area. The evolution of familial partial epilepsies, which exhibit great intrafamilial variabili ty, is not always benign. The level of pharmacoresistance may reach 30%, cl ose to that seen in classical cryptogenic partial epilepsies. The familial character of a partial epilepsy may be unrecognized in small families as so me affected members may have only EEG abnormalities and are clinically asym ptomatic, which reflects incomplete clinical penetrance. In view of the rec ent discoveries of mutations in the alpha 4 nicotinic acetylcholine recepto r subunit in a few families with ADNFLE, this genetic study focused on gene s encoding nicotinic receptor subunits and a candidate region on chromosome 10q, No mutation was detected in the alpha 4 and beta 2 nicotinic acetylch oline receptor subunits, Positive but not significant lod scores were obtai ned in four families with markers from the candidate region on chromosome 1 0q.