Clinical features in a Japanese patient with autosomal dominant lateral temporal epilepsy having LGI1 mutation

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  • Fujita Youshi
    Department of Neurology, Kyoto University Graduate School of Medicine
  • Ikeda Akio
    Department of Neurology, Kyoto University Graduate School of Medicine
  • Kadono Kentaro
    Department of Neurology, Kyoto University Graduate School of Medicine
  • Kawamata Jun
    Department of Neurology, Kyoto University Graduate School of Medicine
  • Tomimoto Hidekazu
    Department of Neurology, Kyoto University Graduate School of Medicine
  • Fukuyama Hidenao
    Human Brain Research Center, Kyoto University Graduate School of Medicine
  • Takahashi Ryosuke
    Department of Neurology, Kyoto University Graduate School of Medicine

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Other Title
  • Ｌｅｕｃｉｎｅ－ｒｉｃｈ　ｇｌｉｏｍａ－ｉｎａｃｔｉｖａｔｅｄ　１（ＬＧＩ１）変異をともなう常染色体優性外側側頭葉てんかんの１例
  • 症例報告 Leucine-rich glioma-inactivated 1(LGI1)変異をともなう常染色体優性外側側頭葉てんかんの1例
  • ショウレイ ホウコク Leucine rich glioma inactivated 1 LGI1 ヘンイ オ トモナウ ジョウ センショクタイ ユウセイ ガイソク ソクトウ ヨウ テンカン ノ 1レイ

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Abstract

We described a clinical feature of autosomal dominant lateral temporal epilepsy (ADLTE) in a Japanese patient having LGI1 mutation. The patient was a 27-year-old woman who had her first seizure at the age of 10 years, a nocturnal generalized seizure. She then had partial seizures manifesting auditory symptoms with or without anxiety, panic attack, déjà vu, sensory aphasia and visual symptoms. Repeated EEGs were normal. Brain MRI showed small left superior temporal gyrus. 18F-deoxyglucose positron emission tomography (PDG-PET) demonstrated glucose hypometabolism in the left lateral temporal lobe. Sequencing of the LGI1 revealed a single base substitution in exon 8 (1642C→T) causing missense mutation at residue 473 of the LGI1 protein (S473L). When one demonstrates ictal symptoms arising from the lateral temporal to occipital area with psychotic symptoms, ADLTE should be suspected and a detailed family history is warranted.<br>

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 49 (4), 186-190, 2009

    Societas Neurologica Japonica

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