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

Abstract

We report a large family with a temporal partial epilepsy syndrome inherited in an autosomal dominant mode, with a penetrance of about 80%. This epilepsy syndrome is benign, with age of onset in the second or third decade of life. It is characterized by rare partial seizures, usually secondarily generalized, arising mostly during sleep, without postictal confusion. There is a good response to the antiepileptic therapy but often a recurrence of seizures after drug withdrawal. The partial component, visual (lights, colors, and simple figures) or auditory (buzzing or “humming like a machine”), the existence of temporo‐occipital interictal electroencephalographic epileptiform abnormalities, and the hypoperfusion in the temporal lobe detected by interictal hexamethylpropyleneamine oxime–technetium 99m (HMPAO‐Tc99m) single‐photon emission computed tomography, strongly suggest a lateral temporal lobe origin. The genetic analysis found linkage to chromosome 10q, and localized a gene in a 15‐cM interval that overlaps a previously found localization for partial epilepsy in a large three‐generation family. This syndrome could be called autosomal dominant lateral temporal epilepsy. Ann Neurol 1999;45:182–188

Autosomal Dominant Partial Epilepsy with Auditory Features: Description of a New Family

“…A form of autosomal dominant partial epilepsy with prominent auditory features (ADPEAF) was first described by Ottman and colleagues (2) in a large three-generation pedigree showing a linkage to chromosome 10q24. The same genetic localization was demonstrated by Poza et al (6) in a second large family with auditory or visual features suggesting a lateral temporal origin. The term autosomal dominant lateral temporal epilepsy was proposed to identify this condition (6).…”

LGI1mutations in autosomal dominant and sporadic lateral temporal epilepsy

“…Subsequently, several families with similar clinical features were reported by different groups Michelucci et al, 2000;Poza et al, 1999;Winawer et al, 2002]. Because other ictal sensory manifestations of lateral temporal origin (e.g., visual, aphasic) occurred in some families, either accompanying auditory symptoms or isolated, the term ADLTE seemed to be more appropriate [Poza et al, 1999]. In 2002, mutations responsible for ADLTE/ADPEAF were identified in the leucine-rich, glioma inactivated 1 gene (LGI1; GeneID 9211; MIM] 604619) by positional cloning [Kalachikov et al, 2002;Morante-Redolat et al, 2002].…”

“…This syndrome was first described by Ottman and colleagues [1995] as Autosomal Dominant Partial Epilepsy with Auditory Features (ADPEAF). Subsequently, several families with similar clinical features were reported by different groups Michelucci et al, 2000;Poza et al, 1999;Winawer et al, 2002]. Because other ictal sensory manifestations of lateral temporal origin (e.g., visual, aphasic) occurred in some families, either accompanying auditory symptoms or isolated, the term ADLTE seemed to be more appropriate [Poza et al, 1999].…”

“…Subsequently, pedigrees from several European countries (Italy, Spain, Germany, France, Norway) and from Australia and Nepal have been described [Berkovic et al, 2004;Brodtkorb et al, 2002, Chabrol et al, 2007Fertig et al, 2003, Mautner et al, 2000Michelucci et al, 2003;Pisano et al, 2005;Poza et al, 1999;Striano et al, 2008], suggesting that ADLTE/ADPEAF, although rare, is a worldwide condition.…”

“…The evolution of the condition is relatively benign because seizures are usually well controlled with standard antiepileptic drugs, although recurrence after drug withdrawal is frequently reported [Michelucci et al, 2003;Ottman et al, 1995;Poza et al, 1999]. In most cases, conventional brain MRI is normal and electroencephalograms frequently show mild temporal abnormalities.…”