Novel mutation in CACNA1S extends the phenotypic spectrum of periodic paralysis phenotypes: Electrodiagnostic and histopathological features

被引:0
|
作者
Iyadurai, S. [1 ]
Roggenbuck, J. [1 ]
Kissel, J. [1 ]
机构
[1] Ohio State Univ, Neurol, Columbus, OH 43210 USA
关键词
D O I
10.1016/j.nmd.2015.06.095
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
G.P.80
引用
收藏
页码:S210 / S210
页数:1
相关论文
共 47 条
  • [1] NOVEL MUTATION IN CACNA1S EXTENDS THE PHENOTYPIC SPECTRUM OF PERIODIC PARALYSIS PHENOTYPES: ELECTRODIAGNOSTIC AND HISTOPATHOLOGICAL FEATURES
    Iyadurai, Stanley
    Roggenbuck, Jennifer
    Kissel, John
    MUSCLE & NERVE, 2015, 52 : S10 - S11
  • [2] Novel CACNA1S mutation in hypokalaemic periodic paralysis
    Luis, Telma
    Linhares, Maria Ines
    Silva, Sonia Regina
    Rodrigues, Filipa
    BMJ CASE REPORTS, 2022, 15 (01)
  • [3] A Novel Mutation in CACNA1S Gene Associated with Hypokalemic Periodic Paralysis
    Zhou, Shan-Shan
    Li, Fei-Feng
    Li, Qian-Qian
    Zhang, Li-Ming
    Liu, Shu-Lin
    Yu, Gui-Chun
    NEUROLOGY, 2011, 76 (09) : A531 - A532
  • [4] Hypokalemic periodic paralysis due to CACNA1S gene mutation
    Alhasan, Khalid A.
    Abdallah, Mohammed S.
    Kari, Jameela A.
    Bashiri, Fahad A.
    NEUROSCIENCES, 2019, 24 (03) : 225 - 230
  • [5] A Novel Mutation in the CACNA1S Gene in a Japanese Family with Hypokalemic Periodic Paralysis
    Hirano, Makito
    Kokunai, Yosuke
    Nakamura, Yusaku
    Saigoh, Kazumasa
    Kusunoki, Susumu
    Takahashi, Masanori P.
    ANNALS OF NEUROLOGY, 2012, 72 : S70 - S70
  • [6] Case report: A novel CACNA1S mutation associated with hypokalemic periodic paralysis
    Nuzhnyi, Evgenii P.
    Arestova, Alina S.
    Rossokhin, Alexey V.
    Protopopova, Anna O.
    Abramycheva, Nataliya Yu
    Suponeva, Natalia A.
    Illarioshkin, Sergey N.
    FRONTIERS IN NEUROLOGY, 2023, 14
  • [7] An atypical case of periodic paralysis with an unreported mutation in the CACNA1S gene
    Orologio, I.
    Razzino, E.
    Napolitano, F.
    Lombardi, L.
    Sampaolo, S.
    EUROPEAN JOURNAL OF NEUROLOGY, 2022, 29 : 481 - 481
  • [8] Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene
    Chabrier, S.
    Monnier, N.
    Lunardi, J.
    JOURNAL OF MEDICAL GENETICS, 2008, 45 (10) : 687 - 689
  • [9] Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family
    Wang, QF
    Liu, MG
    Xu, CS
    Tang, ZH
    Liao, YH
    Du, R
    Li, W
    Wu, XY
    Wang, X
    Liu, P
    Zhang, XQ
    Zhu, JF
    Ren, X
    Ke, T
    Wang, Q
    Yang, JG
    JOURNAL OF MOLECULAR MEDICINE-JMM, 2005, 83 (03): : 203 - 208
  • [10] Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family
    Jin, Jie-Yuan
    Guo, Bing-Bing
    Dong, Yi
    Sheng, Yue
    Fan, Liang-Liang
    Zhang, Li-Bing
    FRONTIERS IN GENETICS, 2021, 12