Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large Basque pedigree linked to chromosome 10q

We report a large family with a temporal partial epilepsy syndrome inherite d in an autosomal dominant mode, with a penetrance of about 80%. This epile psy syndrome is benign, with age of onset in the second or third decade of life. It is characterized by rare partial seizures, usually secondarily gen eralized, arising mostly during sleep, without postictal confusion. There i s a good response to the antiepileptic therapy but often a recurrence of se izures after drug withdrawal, The partial component, visual (lights, colors , and simple figures) or auditory (buzzing or "humming like a machine"), th e existence of temporo-occipital interictal electroencephalographic epilept iform abnormalities, and the hypoperfusion in the temporal lobe detected by interictal hexamethylpropyleneamine oxime-technetium 99m (HMPAO-Tc99m) sin gle-photon emission computed tomography, strongly suggest a lateral tempora l lobe origin. The genetic analysis found linkage to chromosome 10q, and lo calized a gene in a 15-cM interval that overlaps a previously found localiz ation for partial epilepsy in a large three-generation family. This syndrom e could be called autosomal dominant lateral temporal epilepsy.