CACNA1A mutations causing episodic ataxia type 2 lead to loss of function of the P/Q-type calcium channels in vitro

被引:0
|
作者
Wan, JJ
Coulin, CJ
Yu, HF
Kim, G
Baloh, RW
Papazian, D
Jen, J
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:A439 / A439
页数:1
相关论文
共 50 条
  • [31] Novel CACNA1A gene mutation in a Taiwan family with episodic ataxia type 2
    Chen, K. F.
    Tsai, C. H.
    Wu, D. C.
    MOVEMENT DISORDERS, 2018, 33 : S298 - S298
  • [32] A novel mutation of CACNA1A gene in episodic ataxia type 2 family in Korea
    Shin, Kyong Jin
    Park, Jinse
    Oh, Seung Hwan
    Jun, Kyung Ran
    Park, Kang Min
    Ha, Sam Yeol
    EunKim, Sung
    Jang, Wooyoung
    Kim, Ji Sun
    Youn, Jinyoung
    Oh, Eungseok
    Kim, Hee-Tae
    NEUROLOGY ASIA, 2014, 19 (04) : 363 - 366
  • [33] CACNA1A Nonsense Mutation is Associated With Basilar-Type Migraine and Episodic Ataxia Type 2
    Robbins, Matthew S.
    Lipton, Richard B.
    Laureta, Emma C.
    Grosberg, Brian M.
    HEADACHE, 2009, 49 (07): : 1042 - 1046
  • [34] Mutations in the Voltage Dependent Calcium Channel CACNA1A (P/Q type alpha 1A subunit) Causing Neurological Disorders - An Overview
    Manickam, Agaath Hedina
    Ramasamy, Sivasamy
    NEUROLOGY INDIA, 2021, 69 (04) : 808 - 816
  • [35] Premature termination in the CACNA1A gene observed in episodic ataxia type 2 (EA2) results in a loss of alpha1A calcium channel function.
    Jouvenceau, A
    Eunson, L
    Spauschus, A
    Ramesh, V
    Hanna, MG
    Kullmann, DM
    EUROPEAN JOURNAL OF NEUROSCIENCE, 2000, 12 : 454 - 454
  • [36] Episodic ataxia type 2 - Three novel truncating mutations and one novel missense mutation in the CACNA1A gene
    van den Maagdenberg, AMJM
    Kors, EE
    Brunt, ER
    van Paesschen, W
    Pascual, J
    Ravine, D
    Keeling, S
    Vanmolkot, KRJ
    Vermeulen, FLMG
    Terwindt, GM
    Haan, J
    Frants, RR
    Ferrari, MD
    JOURNAL OF NEUROLOGY, 2002, 249 (11) : 1515 - 1519
  • [37] Episodic ataxia type 2 Three novel truncating mutations and one novel missense mutation in the CACNA1A gene
    A. M. J. M. van den Maagdenberg
    E. E. Kors
    E. R. Brunt
    W. van Paesschen
    J. Pascual
    D. Ravine
    S. Keeling
    K. R. J. Vanmolkot
    F. L. M. G. Vermeulen
    G. M. Terwindt
    J. Haan
    R. R. Frants
    M. D. Ferrari
    Journal of Neurology, 2002, 249 : 1515 - 1519
  • [38] Late onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A
    Graves, T
    Imbrici, P
    Eunson, L
    Bhatia, KP
    Wodia, NH
    Hanna, MG
    Kullmann, DM
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2005, 76 (01): : 156 - 157
  • [39] High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
    Denier, C
    Ducros, A
    Vahedi, K
    Joutel, A
    Thierry, P
    Ritz, A
    Castelnovo, G
    Deonna, T
    Gérard, P
    Devoize, JL
    Gayou, A
    Perrouty, B
    Soisson, T
    Autret, A
    Warter, JM
    Vighetto, A
    Van Bogaert, P
    Alamowitch, S
    Roullet, E
    Tournier-Lasserve, E
    NEUROLOGY, 1999, 52 (09) : 1816 - 1821
  • [40] Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2
    Petrovicova, Andrea
    Brozman, Miroslav
    Kurca, Egon
    Gobo, Tibor
    Dluha, Jana
    Kalmarova, Klaudia
    Nosal, Vladimir
    Hikkelova, Martina
    Krajciova, Adriana
    Burjanivova, Tatiana
    Sivak, Stefan
    BIOMEDICAL PAPERS-OLOMOUC, 2017, 161 (01): : 107 - 110