Genotype-phenotype correlations of KCNJ2 mutations in 6 Polish patients with Andersen-Tawil syndrome

被引:0
|
作者
Kostera-Pruszczyk, A. [1 ]
Lipowska, M. [1 ]
Bienias, P. [1 ]
Pruszczyk, P. [1 ]
Ptacek, L. [2 ]
Kwiecinski, H. [1 ]
机构
[1] Med Univ Warsaw, Warsaw, Poland
[2] Univ Calif San Francisco, San Francisco, CA 94143 USA
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:532 / 532
页数:1
相关论文
共 50 条
  • [41] Lack of Any Cardiac Involvement in a Patient with Andersen-Tawil Syndrome Associated with the c.574A→G Mutation in KCNJ2
    Modoni, Anna
    Bianchi, Maria Laura Ester
    Vitulano, Nicola
    Pagliarani, Serena
    Perna, Francesco
    Sanna, Tommaso
    Rizzo, Valentina
    Silvestri, Gabriella
    CARDIOLOGY, 2011, 120 (04) : 200 - 203
  • [42] A Novel KCNJ2 Nonsense Mutation, S369X, Impedes Trafficking and Causes a Limited Form of Andersen-Tawil Syndrome
    Doi, Takahiro
    Makiyama, Takeru
    Morimoto, Takeshi
    Haruna, Yoshisumi
    Tsuji, Keiko
    Ohno, Seiko
    Akao, Masaharu
    Takahashi, Yoshiaki
    Kimura, Takeshi
    Horie, Minoru
    CIRCULATION-CARDIOVASCULAR GENETICS, 2011, 4 (03) : 253 - 260
  • [43] A family with Andersen-Tawil syndrome induced by a new mutation Q164R in the KCNJ2 gene and previous literature review
    王莹颖
    China Medical Abstracts(Internal Medicine), 2018, 35 (02) : 125 - 125
  • [44] Preliminary Results of Andersen-Tawil Syndrome Genotype-Phenotype Longitudinal Study from the Consortium for Clinical Investigation of Neurologic Channelopathies (CINCH)
    Ciafaloni, Emma
    Rajakulendran, Sanjeev
    Hart, Kimberly A.
    Tristani-Firouzi, Martin
    Bundy, Brian N.
    Griggs, Robert C.
    Hanna, Michael G.
    NEUROLOGY, 2011, 76 (09) : A645 - A645
  • [45] Reduced PIP2 Binding to KCNJ2 (M307I) Channels is Linked to Type 1 Andersen-Tawil Syndrome
    Tan, Bi-Hua
    Dovat, Sinisa
    Peterson, Blaise Z.
    Song, Chunhua
    BIOPHYSICAL JOURNAL, 2013, 104 (02) : 129A - 129A
  • [46] Biophysical and Molecular Characterization of a Novel De Novo KCNJ2 Mutation Associated With Andersen-Tawil Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia Mimicry
    Barajas-Martinez, Hector
    Hu, Dan
    Ontiveros, Gustavo
    Caceres, Gabriel
    Desai, Mayurika
    Burashnikov, Elena
    Scaglione, Jorge
    Antzelevitch, Charles
    CIRCULATION-CARDIOVASCULAR GENETICS, 2011, 4 (01) : 51 - 57
  • [47] Phenotype variability in patients carrying KCNJ2 mutations
    Kimura, H.
    Zhou, J.
    Itoh, H.
    Mizusawa, Y.
    Miyamoto, A.
    Kawamura, M.
    Makiyama, T.
    Ito, M.
    Matsuura, H.
    Horie, M.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2011, 183 : 666 - 666
  • [48] Phenotype variability in patients carrying KCNJ2 mutations
    Kimura, H.
    Zhou, J.
    Itoh, H.
    Mizusawa, Y.
    Miyamoto, A.
    Kawamura, M.
    Makiyama, T.
    Ito, M.
    Matsuura, H.
    Horie, M.
    EUROPEAN HEART JOURNAL, 2011, 32 : 666 - 666
  • [49] Phenotype Variability in Patients Carrying KCNJ2 Mutations
    Kimura, Hiromi
    Zhou, Jun
    Kawamura, Mihoko
    Itoh, Hideki
    Mizusawa, Yuka
    Ding, Wei-Guang
    Wu, Jie
    Ohno, Seiko
    Makiyama, Takeru
    Miyamoto, Akashi
    Naiki, Nobu
    Wang, Qi
    Xie, Yu
    Suzuki, Tsugutoshi
    Tateno, Shigeru
    Nakamura, Yoshihide
    Zang, Wei-Jin
    Ito, Makoto
    Matsuura, Hiroshi
    Horie, Minoru
    CIRCULATION-CARDIOVASCULAR GENETICS, 2012, 5 (03) : 344 - 353
  • [50] Functional characterization of novel KCNJ2 mutations associated with Andersen's syndrome
    Teodorescu, GA
    Hang, C
    Jurkat-Rott, K
    Lehmann-Horn, F
    Grissmer, S
    BIOPHYSICAL JOURNAL, 2005, 88 (01) : 106A - 107A