2008 Fiscal Year Final Research Report
A multidisciplinary study of autosomal dominant lateral temporal lobe epilepsy (ADLTE)
| Project/Area Number |
18590935
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | Kyoto University |
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Principal Investigator |
IKEDA Akio Kyoto University, 医学研究科, 准教授 (90212761)
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| Co-Investigator(Kenkyū-buntansha) |
KAWAMATA Jun 京都大学, 医学研究科, 助教 (60360814)
ISHIZU Kouichi 京都大学, 医学研究科, 准教授 (50314224)
MATSUMOTO Riki 京都大学, 医学研究科, 助教 (00378754)
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| Co-Investigator(Renkei-kenkyūsha) |
NAGAMINE Takashi 札幌医科大学, 医学部, 教授 (10231490)
USUI Keiko 静岡てんかん, 神経医療センター, 医師 (60402872)
KINOSHITA Masako 国立病院機構宇多野病院, 医長 (90402883)
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| Project Period (FY) |
2006 – 2008
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| Keywords | 常染色体優性外側側頭葉てんかん / 部分てんかん / LGI1 遺伝子 / genotype / phenotype |
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| Research Abstract |
側頭葉てんかんは成人てんかんで最も多く、常染色体優性外側側頭葉てんかん(ADLTE)はイオンチャンネル以外の遺伝子(LGI1)異常が発見され、その病態を検討した.3家系でのLGI1 のアミノ酸置換を伴う点変異は、exon8 の1645G>A と1642C>T、exon7 の677T>G で、家系間と家系内で症状差を認め、外側・内側側頭葉症状、パニック発作などが混在した.FDG-PET、MRI で外側側頭葉の糖代謝低下と容量低下を示した.音刺激での誘発発作を有する患者では、全頭型脳磁場計測装置で聴覚誘発磁場振幅の異常増強を認めた.本疾患では、genotype とphenotype の相違を決定する修飾因子の存在が示唆され、今後は全国規模の多数例の解析と動物モデルでの病態研究を予定する.
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Research Products
(58 results)
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[Journal Article] Negative motor seizure arising from negative motor area : is it ictal apraxia?2009
Author(s)
Ikeda A, Hirasawa K, Kinoshita M, Hitomi T, Matsumoto R, Mitsueda T, Ta ki J, Mikuni N, Hori T, Fukuyama H, Hashimoto N, Shibasaki H, Takahashi R
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Journal Title
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[Journal Article] Usefulness of MEG magnetometer for spike detection iinpatients with mesial temporal lobe epileptic focus2008
Author(s)
Enatsu R, Mikuni N, Usui K, Matsubayashi J, Taki J, Begum T, Matsumoto R, Ikeda A, Nagamine T, Fukuyama H, Hashimoto N
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Journal Title
Neuroimage 41
Pages: 1206-1219
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[Journal Article] Hemispheric asymmetry of the arcuate fasciculus in patients with unilateral language dominance defined by Wada test : A diffusion tensor tractography study2008
Author(s)
Matsumoto R, Okada T, Mikuni N, Mitsueda T, Taki J, Sawamoto N, Hanakawa T, Miki Y Hashimoto N, Fukuyama H, Takahashi R, Ikeda A
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Journal Title
J Neurol 255
Pages: 1703-11
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[Journal Article] Fibers from the dorsal premotor cortex elicit motor-evoked potential in a cortical dysplasia2007
Author(s)
Mikuni N, Okada T, Taki J, Matsumoto R, Nishida N, Enatsu R, Hanakawa T, Ikeda A, Miki Y, Urayama S, Fukuyama H, Hashimoto N
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Journal Title
Neuroimage 34
Pages: 12-18
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[Journal Article] Widdess-Walshl P : Are epilepsy classifications based on epileptic syndromes and seizure types outdated2006
Author(s)
Luders HO, Acharya J, Alexopoulosl A, Baumgartner, Bautista J, R. Burgess R, Carreno M, Diehl B, Dinner D1, Ebner A, Foldvary N, Godoy J, Hamer H, Ikeda A, Kallen K, Kellinghaus C, Kotagal P, Lachhwanil D, Loddenkemper T , ManI J, Matsumoto R, Moddel G, Nair D, Noachtar S, 0' Donovan CA, Rona S, Rosenow F, Schuelel S, Szabo CA, Tandon N, Tanner A
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Journal Title
Epileptic Disord 8
Pages: 81-85
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[Journal Article] Generators and temporal succession of giant somatsensory evoked potentials epicortical recording from sensorimotor cortex2006
Author(s)
Hitomi T, Ikeda A, Matsumoto R, Kinoshita M, Taki J, Usui K, Mikuni N, Nagamine T, Hashimoto N, Shibasaki H, Takahashi R
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Journal Title
Clin Neurophysiol 117
Pages: 1481-1486
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[Journal Article] Low-frequency electric cortical stimulation decreases interictal and ictal activity in human epilepsy2006
Author(s)
Yamamoto J, Ikeda A, Kinoshita M, Matsumoto R, Satow T, Takeshita K, Matsuhashi M, Mikuni N, Miyamoto S, Hashimoto N, Shibasaki H
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Journal Title
Seizure 15
Pages: 520-527
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