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Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q
Author(s) -
Poza J. J.,
Sáenz A.,
MartínezGil A.,
Cheron N.,
Cobo A. M.,
Urtasun M.,
MartíMassó J. F.,
Grid D.,
Beckmann J. S.,
Prud'Homme J. F.,
López De Munain A.
Publication year - 1999
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(199902)45:2<182::aid-ana8>3.0.co;2-g
Subject(s) - ictal , epilepsy , temporal lobe , generalized epilepsy , penetrance , neuroscience , rolandic epilepsy , epilepsy syndromes , medicine , psychology , biology , genetics , gene , phenotype
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