A Novel Mutation in CACNA1S Gene Associated with Hypokalemic Periodic Paralysis

被引:0
|
作者
Zhou, Shan-Shan
Li, Fei-Feng
Li, Qian-Qian
Zhang, Li-Ming
Liu, Shu-Lin
Yu, Gui-Chun
机构
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:A531 / A532
页数:2
相关论文
共 50 条
  • [31] A Novel CLCN1 Gene Mutation Associated with Hypokalemic Periodic Paralysis in a Pregnant Woman
    Atrash, Jawad
    Abu Libdeh, Omar
    Fteiha, Bashar
    Abu Sneineh, Marwan
    Bnaya, Alon
    Shavit, Linda
    ISRAEL MEDICAL ASSOCIATION JOURNAL, 2024, 26 (10): : 591 - 592
  • [32] A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene
    Toppin, P. Jason
    Chandy, Tony T.
    Ghanekar, Anand
    Kraeva, Natalia
    Beattie, W. Scott
    Riazi, Sheila
    CANADIAN JOURNAL OF ANAESTHESIA-JOURNAL CANADIEN D ANESTHESIE, 2010, 57 (07): : 689 - 693
  • [33] A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis
    Hirano, Makito
    Kokunai, Yosuke
    Nagai, Asami
    Nakamura, Yusaku
    Saigoh, Kazumasa
    Kusunoki, Susumu
    Takahashi, Masanori P.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2011, 309 (1-2) : 9 - 11
  • [34] A novel Kir2.6 mutation associated with hypokalemic periodic paralysis
    Zheng, Jinfan
    Liang, Zonglai
    Hou, Ying
    Liu, Fuchen
    Hu, Yuanyuan
    Lin, Pengfei
    Yan, Chuanzhu
    CLINICAL NEUROPHYSIOLOGY, 2016, 127 (06) : 2503 - 2508
  • [35] CACNA1S related congenital myopathy with periodic paralysis and good response to acetazolamide
    Munot, P.
    Zaharieva, I.
    Feng, L.
    Phadke, R.
    Sewry, C. A.
    Matthews, E.
    Muntoni, F.
    NEUROMUSCULAR DISORDERS, 2017, 27 : S35 - S36
  • [36] Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family
    Houinato, Dismand
    Laleye, Anatole
    Adjien, Constant
    Adjagba, Marius
    Sternberg, Damien
    Hilbert, Pascale
    Vallat, Jean-Michel
    Darboux, Raphael Barthelemy
    Funalot, Benoit
    Avode, Dossou Gilbert
    NEUROMUSCULAR DISORDERS, 2007, 17 (05) : 419 - 422
  • [37] A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis
    Donghwi Park
    Sung-Hee Kim
    Yun Jeong Lee
    Gyun-Jee Song
    Jin-Sung Park
    Acta Neurologica Belgica, 2018, 118 : 137 - 139
  • [38] A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis
    Park, Donghwi
    Kim, Sung-Hee
    Lee, Yun Jeong
    Song, Gyun-Jee
    Park, Jin-Sung
    ACTA NEUROLOGICA BELGICA, 2018, 118 (01) : 137 - 139
  • [39] Autosomal dominant early onset vacuolar myopathy with granular material, without periodic paralysis, associated with c.1583C>A CACNA1S gene mutation
    Bisciglia, M.
    Kadhim, H.
    Lecomte, S.
    Vandernoot, I.
    Desmyter, L.
    Remiche, G.
    NEUROMUSCULAR DISORDERS, 2021, 31 : S117 - S118
  • [40] Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis
    Aburahma, Samah K.
    Rousan, Liqa A.
    Shboul, Mohammad
    Biella, Fabio
    Lucchiari, Sabrina
    Comi, Giacomo Pietro
    Meola, Giovanni
    Pagliarani, Serena
    FRONTIERS IN NEUROLOGY, 2024, 15