2013 Fiscal Year Final Research Report
The clarification of molecular pathology of alternating hemiplegia of childhood.
| Project/Area Number |
23791201
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Fukuoka University |
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Principal Investigator |
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| Project Period (FY) |
2011 – 2013
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| Keywords | 小児神経 / 遺伝子 / ATP1A3 / てんかん / 不随意運動 / エクソーム解析 / イオンチャネル / 次世代シークエンサー |
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| Research Abstract |
Alternating hemiplegia of childhood (AHC) has an onset of an abnormal eye movement during the early years of life and paroxysmal hemiplegia in the first year and a half. In addition, AHC has associated symptoms that are epilepsy and a variety of involuntary movements. There are not specific examination findings and established treatments.
Exome sequencing was performed for the 8 patients with typical AHC to identify a responsible gene. As a result, each patient harbored a heterozygous missense ATP1A3 mutation. These mutations were not found in their parents. We elucidated that a de novo heterozygous missense mutation in the ATP1A3 gene is a cause of AHC. In addition, we found out the significant correlation between phenotype and E815K mutation.
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[Journal Article] Distinct neurological disorders with ATP1A3 mutations2014
Author(s)
Heinzen E. L., Arzimanoglou A., Brashear A., Clapcote S. J., Gurrieri F., Goldstein D. B., Johannesson S. H., Mikati M. A., Neville B., Nicole S., Ozelius L. J., Poulsen H., Schyns T., Sweadner K. J., van den Maagdenberg A., Vilsen B., for the A. T. P. A. Working Group
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Journal Title
Lancet Neurol
Volume: 13(5)
Pages: 503-514
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[Journal Article] Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy2014
Author(s)
Ishii A., Kanaumi T., Sohda M., Misumi Y., Zhang B., Kakinuma N., Haga Y., Watanabe K., Takeda S., Okada M., Ueno S., Kaneko S., Takashima S., Hirose S.
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Journal Title
Epilepsy Res
Volume: 108(3)
Pages: 420-432
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[Journal Article] Genotype-phenotype correlations in alternating hemiplegia of childhood2014
Author(s)
S asaki M., Ishii A., Saito Y., Morisada N., Iijima K., Takada S., Araki A., Tanabe Y., Arai H., Yamashita S., Ohashi T., Oda Y., Ichiseki H., Hirabayashi S., Yasuhara A., Kawawaki H., Kimura S., Shimono M., Narumiya S., Suzuki M., Yoshida T., Oyazato Y., Tsuneishi S., Ozasa S., Yokochi K., Dejima S., Akiyama T., Kishi N., Kira R., Ikeda T., Oguni H., Zhang B., Tsuji S., Hirose S.
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Journal Title
Neurology
Volume: 82(6)
Pages: 482-490
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[Journal Article] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients2013
Author(s)
Ishii A., Saito Y., Mitsui J., Ishiura H., Yoshimura J., Arai H., Yamashita S., Kimura S., Oguni H., Morishita S., Tsuji S., Sasaki M., Hirose S.
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Journal Title
PLOS ONE
Volume: 8(2)
Pages: e56120
DOI
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[Journal Article] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis2013
Author(s)
Ishii A., Yasumoto S., Ihara Y., Inoue T., Fujita T., Nakamura N., Ohfu M., Yamashita Y., Takatsuka H., Taga T., Miyata R., Ito M., Tsuchiya H., Matsuoka T., Kitao T., Murakami K., Lee W. T., Kaneko S., Hirose S.
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Journal Title
Brain Dev
Volume: 35(6)
Pages: 524-530
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[Journal Article] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis2012
Author(s)
Ishii A., Yasumoto S., Ihara Y., Inoue T., Fujita T., Nakamura N., Ohfu M., Yamashita Y., Takatsuka H., Taga T., Miyata R., Ito M., Tsuchiya H., Matsuoka T., Kitao T., Murakami K., Lee W. T., Kaneko S., Hirose S.
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Journal Title
DOI
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[Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japan2013
Author(s)
Ishii A., Saito Y., Mitsui J., Ishiura H., Yoshimura J., Arai H., Yamashita S., Kimura S., Oguni H., Morishita S., Tsuji S., Sasaki M., Hirose S
Organizer
30th International Epilepsy Congress
Place of Presentation
(国際学会・シンポジウム)
Year and Date
2013-06-26
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[Presentation] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choleoathetosis syndrome, and benign convulsions with mild gastroenteritis2012
Author(s)
Ishii A., Yasumoto S., Ihara Y., Inoue T., Fujita T., Nakamura N., Ohfu M., Lee WT., Kaneko S., Hirose S.
Organizer
2012 Korea Epilepsy Congress
Place of Presentation
Inchon(国際学会・シンポジウム)
Year and Date
2012-06-08
