ATP1A3 De Novo Mutations in Alternating Hemiplegia of Childhood

被引：0
|
作者：
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.
机构：
来源：
ANNALS OF NEUROLOGY | 2012年 / 72卷
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：
引用
收藏
页码：S174 / S175
页数：2
相关论文
共 50 条
  • [21] Alternating hemiplegia of childhood in Denmark: Clinical manifestations and ATP1A3 mutation status
    Hoei-Hansen, Christina E.
    Dali, Christine I.
    Lyngbye, Troels J. B.
    Duno, Morten
    Uldall, Peter
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2014, 18 (01) : 50 - 54
  • [22] ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities
    Giacanelli, Manlio
    Petrucci, Antonio
    Lispi, Ludovico
    Luna, Rodolfo
    Neri, Giovanni
    Gurrieri, Fiorella
    Angelini, Corrado
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 379 : 36 - 38
  • [23] De novo mutations in CLDN5: alternating hemiplegia of childhood or not?
    Panagiotakaki, Eleni
    Papadopoulou, Maria T.
    Lesca, Gaetan
    Arzimanoglou, Alexis
    Mikati, Mohamad A.
    BRAIN, 2023, 146 (08) : E57 - E58
  • [24] ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood - Potential target of treatment?
    Wong, Virginia C. N.
    Kwong, Anna K. Y.
    BRAIN & DEVELOPMENT, 2015, 37 (09): : 907 - 910
  • [25] 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
  • [26] Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations
    Capuano, Alessandro
    Garone, Giacomo
    Tiralongo, Giuseppe
    Graziola, Federica
    APPLICATION OF CLINICAL GENETICS, 2020, 13 : 71 - 81
  • [27] De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis
    Hikaru Kanemasa
    Ryoko Fukai
    Yasunari Sakai
    Michiko Torio
    Noriko Miyake
    Sooyoung Lee
    Hiroaki Ono
    Satoshi Akamine
    Kei Nishiyama
    Masafumi Sanefuji
    Yoshito Ishizaki
    Hiroyuki Torisu
    Hirotomo Saitsu
    Naomichi Matsumoto
    Toshiro Hara
    BMC Neurology, 16
  • [28] De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis
    Kanemasa, Hikaru
    Fukai, Ryoko
    Sakai, Yasunari
    Torio, Michiko
    Miyake, Noriko
    Lee, Sooyoung
    Ono, Hiroaki
    Akamine, Satoshi
    Nishiyama, Kei
    Sanefuji, Masafumi
    Ishizaki, Yoshito
    Torisu, Hiroyuki
    Saitsu, Hirotomo
    Matsumoto, Naomichi
    Hara, Toshiro
    BMC NEUROLOGY, 2016, 16
  • [29] Opsoclonus in Alternating Hemiplegia of Childhood Secondary to ATP1A3 p.Gly803Arg
    Runco, Alyssa D.
    Levine, Jesse M.
    Trandafir, Cristina
    Foroozan, Rod
    Parnes, Mered
    Calame, Daniel G.
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2025, 12 (01): : 97 - 99
  • [30] Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?
    Desguerre, Isabelle
    Aubart, Melodie
    Hashimoto, Yosuke
    Poirier, Karine
    Kaminska, Anna
    Alison, Marianne
    Boddaert, Nathalie
    Munnich, Arnold
    Campbell, Matthew
    BRAIN, 2023, 146 (08) : E59 - E60
12345