Mutation of a putative potassium channel tetramerization domain in familial progressive myoclonic epilepsy

被引:0
|
作者
Van Bogaert, Patrick
Azizieh, Regis
Aeby, Alec
De Meirleir, Linda
Christiaens, Florence
Desir, Julie
Abramowicz, Marc J.
机构
[1] ULB, Erasme Hosp, Brussels, Belgium
[2] Vrije Univ Brussels, AZ, Brussels, Belgium
[3] UCL St Luc, Brussels, Belgium
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:373 / 373
页数:1
相关论文
共 50 条
  • [1] Mutation of a potassium channel-related gene in progressive myoclonic epilepsy
    Van Bogaert, Patrick
    Azizieh, Regis
    Desir, Julie
    Aeby, Alec
    De Meirleir, Linda
    Laes, Jean-Francois
    Christiaens, Florence
    Abramowicz, Marc J.
    ANNALS OF NEUROLOGY, 2007, 61 (06) : 579 - 586
  • [2] Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK): a cause of progressive myoclonic epilepsy
    Rohan R. Mahale
    Ravindu Tiwari
    Gautham Arunachal
    Hansashree Padmanabha
    Pooja Mailankody
    Acta Neurologica Belgica, 2022, 122 : 801 - 803
  • [3] Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK): a cause of progressive myoclonic epilepsy
    Mahale, Rohan R.
    Tiwari, Ravindu
    Arunachal, Gautham
    Padmanabha, Hansashree
    Mailankody, Pooja
    ACTA NEUROLOGICA BELGICA, 2022, 122 (03) : 801 - 803
  • [4] Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy
    Krabichler, Birgit
    Rostasy, Kevin
    Baumann, Matthias
    Karall, Daniela
    Scholl-Buergi, Sabine
    Schwarzer, Christoph
    Gautsch, Kurt
    Spreiz, Ana
    Kotzot, Dieter
    Zschocke, Johannes
    Fauth, Christine
    Haberlandt, Edda
    ANNALS OF HUMAN GENETICS, 2012, 76 : 326 - 331
  • [5] A NOVEL HOMOZYGOUS MISSENSE MUTATION IN THE POTASSIUM CHANNEL RELATED GENE KCTD7 IN PROGRESSIVE MYOCLONIC EPILEPSY
    Krabichler, B.
    Haberlandt, E.
    Rostasy, K.
    Karall, D.
    Scholl-Buergi, S.
    Spreiz, A.
    Kotzot, D.
    Zschocke, J.
    Fauth, C.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S236 - S236
  • [6] Challenging diagnosis of familial adult myoclonic epilepsy presenting as a progressive myoclonic epilepsy
    Gonzalez Giraldez, B.
    Machio-Castello, M.
    Trujillo Tiebas, M. J.
    Avila Fernandez, A.
    Lorda Sanchez, I.
    Serratosa, J. M.
    EPILEPSIA, 2023, 64 : 203 - 203
  • [7] PROGRESSIVE FAMILIAL MYOCLONIC EPILEPSY - A NEUROPHYSIOLOGICAL STUDY
    CASTILLA, J
    MARTIN, M
    LLUCH, T
    PATRIGNANI, J
    ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY, 1984, 57 (04): : P69 - P70
  • [8] Familial Kufs' disease presenting as a progressive myoclonic epilepsy
    B. Sadzot
    M. Reznik
    J.E. Arrese-Estrada
    G. Franck
    Journal of Neurology, 2000, 247 : 447 - 454
  • [9] Familial Kufs' disease presenting as a progressive myoclonic epilepsy
    Sadzot, B
    Reznik, M
    Arrese-Estrada, JE
    Franck, G
    JOURNAL OF NEUROLOGY, 2000, 247 (06) : 447 - 454
  • [10] Crystal structure of the tetramerization domain of the Shaker potassium channel
    Andreas Kreusch
    Paul J. Pfaffinger
    Charles F. Stevens
    Senyon Choe
    Nature, 1998, 392 : 945 - 948