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

Détails

ID Serval
serval:BIB_564D520FCDBC
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q
Périodique
Annals of Neurology
Auteur⸱e⸱s
Poza  J. J., Saenz  A., Martinez-Gil  A., Cheron  N., Cobo  A. M., Urtasun  M., Marti-Masso  J. F., Grid  D., Beckmann  J. S., Prud'homme  J. F., Lopez de Munain  A.
ISSN
0364-5134 (Print)
Statut éditorial
Publié
Date de publication
02/1999
Volume
45
Numéro
2
Pages
182-8
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Feb
Résumé
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.
Mots-clé
Chromosomes, Human, Pair 10/*genetics Epilepsy, Temporal Lobe/*genetics Female *Functional Laterality Genotype Humans *Linkage (Genetics) Lod Score Male Pedigree
Pubmed
Web of science
Création de la notice
25/01/2008 16:18
Dernière modification de la notice
20/08/2019 14:10
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