• Jun Kawamata, Akio Ikeda, Youshi Fujita, Keiko Usui, Shun Shimohama, and Ryosuke Takahashi.
• Department of Neurology and Human Brain Research Center, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan.
• Epilepsia. 2010 Apr 1; 51 (4): 690-3.

AbstractAutosomal dominant lateral temporal lobe epilepsy (ADLTE) caused by LGI1 (leucine-rich gene, glioma-inactivated-1) mutations is a rare familial epileptic syndrome characterized by the auditory ictal manifestation and rare nocturnal generalized seizures. We have examined the sequence of the LGI1 gene in four Japanese families with lateral temporal lobe epilepsy having characteristic auditory features, and identified one novel (1421G>A), and one reported (1418C>T) point mutation each in two families. These two mutations were 3 bp apart in the LGI1 gene and caused adjoining amino acid substitutions. The two families presented different clinical phenotypes and seizure control to drug treatment. These findings suggest that LGI1 mutations in Japanese ADLTE families may not be uncommon, and that diverse clinical phenotypes make adequate diagnosis of ADLTE difficult when only based on clinical information.

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