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|Type:||Artigo de periódico|
|Title:||Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras|
|Abstract:||Background: Two forms of familial temporal lobe epilepsy (FTLE) have been described: mesial FTLE and FTLE with auditory auras. The gene responsible for mesial FTLE has not been mapped yet, whereas mutations in the LGI1 (leucine-rich, glioma-inactivated 1) gene, localized on chromosome 10q, have been found in FTLE with auditory auras. Objective: To describe magnetic resonance imaging (MRI) findings in patients with FTLE with auditory auras. Design and Methods: We performed detailed clinical and molecular studies as well as MRI evaluation (including volumetry) in all available individuals from one family, segregating FTLE from auditory auras. Results: We evaluated 18 of 23 possibly affected individuals, and 13 patients reported auditory auras. In one patient, auditory auras were associated with deja vu; in one patient, with ictal aphasia;, and in 2 patients, with visual misperception. Most patients were not taking medication at the time, although all of them reported sporadic auras. Two-point lod scores were positive for 7 genotyped markers on chromosome 10q, and a Zmax of 6.35 was achieved with marker D10S185 at a recombination fraction of 0.0. Nucleotide sequence analysis of the LGI1 gene showed a point mutation, VIIIS7(-2)A-G, in all affected individuals. Magnetic resonance imaging was performed in 22 individuals (7 asymptomatic, 4 of them carriers of the affected haplotype on chromosome 10q and the VIIIS7[-2]A-G mutation). Lateral temporal lobe malformations were identified by visual analysis in 10 individuals, 2 of them with global enlargement demonstrated by volumetry. Mildly reduced hippocampi were observed in 4 individuals. Conclusions: In this family with FTLE with auditory auras, we found developmental abnormalities in the lateral cortex of the temporal lobes in 53% of the affected individuals. In contrast with mesial FTLE, none of the affected individuals had MRI evidence of hippocampal sclerosis.|
|Editor:||Amer Medical Assoc|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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