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 déjà 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.
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 déjà 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.
Authors: Leonardo Bonilha; Andréa Alessio; Chris Rorden; Gordon Baylis; Benito P Damasceno; Li Li Min; Fernando Cendes Journal: Hum Brain Mapp Date: 2007-12 Impact factor: 5.038
Authors: Yong Teng; Xiayang Xie; Steven Walker; Grzegorz Rempala; David J Kozlowski; Jeff S Mumm; John K Cowell Journal: Hum Mol Genet Date: 2010-09-06 Impact factor: 6.150
Authors: Karl Martin Klein; Manuela Pendziwiat; Rony Cohen; Silke Appenzeller; Carolien G F de Kovel; Felix Rosenow; Bobby P C Koeleman; Gregor Kuhlenbäumer; Liron Sheintuch; Ronel Veksler; Alon Friedman; Zaid Afawi; Ingo Helbig Journal: J Neurol Date: 2015-10-12 Impact factor: 4.849
Authors: R Ottman; L Rosenberger; A Bagic; K Kamberakis; E K Ritzl; A M Wohlschlager; S Shamim; S Sato; C Liew; W D Gaillard; E Wiggs; M M Berl; P Reeves-Tyer; E H Baker; J A Butman; W H Theodore Journal: Neurology Date: 2008-12-09 Impact factor: 9.910