Neuropathology of a case of alternating hemiplegia of childhood associated with E815K variant of the ATP1A3 gene

被引:0
|
作者
Sano, T. [1 ]
Nakayama, Y. [1 ]
Kawano, O. [1 ]
Motohashi, Y. [1 ]
Sumitomo, N. [1 ]
Takeshita, E. [1 ]
Saito, T. [1 ]
Komaki, H. [1 ]
Nakagawa, E. [1 ]
Mizutani, M. [1 ]
Sasaki, M. [1 ]
Takao, M. [1 ]
机构
[1] Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Tokyo, Japan
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
217
引用
收藏
页码:580 / 580
页数:1
相关论文
共 50 条
  • [1] Alternating Hemiplegia of Childhood associated with a pathogenic variant of the ATP1A3 gene
    Sandoval, Francisca
    Lopez, Francisca
    ANDES PEDIATRICA, 2022, 93 (01): : 117 - 122
  • [2] Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report
    Kusunoki, Shouichirou
    Kido, Jun
    Momosaki, Ken
    Sawada, Takaaki
    Kashiki, Tomoko
    Matsumoto, Shirou
    Nakamura, Kimitoshi
    CASE REPORTS IN NEUROLOGY, 2020, 12 (03) : 299 - 306
  • [3] Novel E815K knock-in mouse model of alternating hemiplegia of childhood
    Helseth, Ashley R.
    Hunanyan, Arsen S.
    Adil, Syed
    Linabarger, Molly
    Sachdev, Monisha
    Abdelnour, Elie
    Arehart, Eric
    Szabo, Marlee
    Richardson, Jordan
    Wetsel, William C.
    Hochgeschwender, Ute
    Mikati, Mohamad A.
    NEUROBIOLOGY OF DISEASE, 2018, 119 : 100 - 112
  • [4] Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations
    Pavlidis, Elena
    Uldall, Peter
    Madsen, Camilla Gobel
    Nikanorova, Marina
    Fabricius, Martin
    Hogenhaven, Hans
    Pisani, Francesco
    Moller, Rikke S.
    Gardella, Elena
    Rubboli, Guido
    EPILEPTIC DISORDERS, 2017, 19 (02) : 226 - 230
  • [5] Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients
    Ulate-Campos, Adriana
    Fons, Carmen
    Campistol, Jaume
    Martorell, Loreto
    Cancho-Candela, Ramon
    Eiris, Jesus
    Lopez-Laso, Eduardo
    Pineda, Mercedes
    Sans, Anna
    Velazquez, Ramon
    MEDICINA CLINICA, 2014, 143 (01): : 25 - 28
  • [6] ATP1A3 mosaicism in families with alternating hemiplegia of childhood
    Yang, Xiaoling
    Yang, Xiaoxu
    Chen, Jiaoyang
    Li, Shupin
    Zeng, Qi
    Huang, August Y.
    Ye, Adam Y.
    Yu, Zhe
    Wang, Sheng
    Jiang, Yuwu
    Wu, Xiru
    Wu, Qixi
    Wei, Liping
    Zhang, Yuehua
    CLINICAL GENETICS, 2019, 96 (01) : 43 - 52
  • [7] Mutations in ATP1A3 cause alternating hemiplegia of childhood
    Aminkeng, F.
    CLINICAL GENETICS, 2013, 83 (01) : 32 - 33
  • [9] ATP1A3 De Novo Mutations in Alternating Hemiplegia of Childhood
    Heinzen, E. L.
    Swoboda, K. J.
    Hitomi, Y.
    Gurrieri, F.
    Nicole, S.
    Vries, B. D.
    Tiziano, D.
    Fontaine, B.
    Walley, N. M.
    Heavin, S.
    Panagiotakaki, E.
    Abiusi, E.
    Pietro, L. D.
    Sweney, M. T.
    Newcomb, T. M.
    Viollet, L.
    Huff, C.
    Jorde, L.
    Reyna, S. P.
    Murphy, K. J.
    Shianna, K., V
    Gumbs, C. E.
    Little, L.
    Silver, K.
    Ptacek, L. J.
    Haan, J.
    Ferrari, M. D.
    Bye, A. M.
    Herkes, G. K.
    Whitelaw, C. M.
    Web, D.
    Lynch, B. J.
    Uldall, P.
    King, M. D.
    Scheffer, I. E.
    Neri, G.
    Arzimanoglou, A.
    Maagdenberg, A.
    Sisodiya, S. M.
    Mikati, M. A.
    Goldstein, D. B.
    ANNALS OF NEUROLOGY, 2012, 72 : S174 - S175
  • [10] Impaired Cell Surface Expression of ATP1A3 Mutations Associated with Alternating Hemiplegia of Childhood
    Simmons, Christine
    Swoboda, Kathryn
    Ess, Kevin
    George, Alfred
    BIOPHYSICAL JOURNAL, 2015, 108 (02) : 311A - 311A