Familial temporal lobe epilepsy - Autosomal dominant inheritance in a large pedigree from Southern Italy

To further elucidate the inheritance pattern and range of phenotypic manife stations of benign familial temporal lobe epilepsy (FTLE), we report a larg e family recently identified in southern Italy. There were 8 patients (4 me n), ranging in age from 31 to 68 years in three generations. One affected p atient was deceased at the time of the study. Genealogical study strongly s upported autosomal dominant inheritance with incomplete penetrance, as thre e unaffected individuals transmitted the disease. Clinical anticipation cou ld not be assessed because of the ascertainment method. Male to male transm ission occurred. Identifiable antecedents for seizures were present in only two patients, who had a simple febrile convulsion and a closed head trauma , respectively. Migraine was overrepresented in this family. Onset of seizu res ranged from 17 to 52 years (mean: 27 years). All patients had weekly si mple partial seizures suggestive of temporal origin with vegetative or expe riential phenomena. Very rare partial complex seizures occurred in 6/7 pati ents. One had two generalized nocturnal seizures as well. Two had previousl y been misdiagnosed as having gastritis or panic attacks, and one had not b een diagnosed. Interictal anteromesiotemporal spiking was seen in 5/7 patie nts, and occurred mostly during NREM sleep. Neurological examination, brain CT or MR scans were normal. Antiepileptic medication always controlled the seizures. (C) 2000 Elsevier Science B.V. All rights reserved.