Abitudine al fumo in pazienti con epilessia frontale notturna

The beneficial effect of nicotine administration was reported in patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) with mutation of neuronal nicotinic acetylcoline receptor (nAChR). Our study aimed to verify whether there is a higher frequency of tobacco use among NFLE patients and their relatives compared to a healthy control group. The following groups have been included: NFLE patients with video-EEG recording of at least 1 hypermotor/asymmetric tonic seizure or 2 paroxysmal arousals; relatives of patients with NFLE: at least 7 members of the proband family; control subjects: matched to probands for age, sex, education and geographic origin; relatives of control subjects: at least 7 members of the control family. We interviewed 434 individuals with a questionnaire regarding tobacco use. 33 patients with NFLE, 182 relatives of probands, 31 healthy controls and 188 relatives of controls.The frequency of tobacco use did not differ in the two groups: NFLE group (48.8%) vs control group (43.4%) (P = 0.289). We found no difference in the distribution of tobacco use among NFLE patients and their relatives compared to the control group. Our finding could be due to the fact that none of our patients have any of the known mutations of nAChR. Alternatively the genetic model of ADNFLE is not representative of the whole NFLE population. Genetic and environmental mechanisms other than the known mutations may be implicated in the pathogenesis of NFLE in most cases making NFLE a multifactorial polygenic disease.