A novel CACNA1A gene mutation causing Episodic Ataxia Type 2

被引:0
|
作者
Penkava, J. [1 ]
Eulenburg, P. Zu [1 ]
Huppert, D. [1 ]
Strupp, M. [2 ]
Becker-Bense, S. [1 ]
机构
[1] Ludwig Maximilians Univ Munchen, German Ctr Vertigo & Balance Disorde, Munich, Germany
[2] Univ Munich, Dept Neurol, Munich, Germany
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
EPR1223
引用
收藏
页码:244 / 244
页数:1
相关论文
共 50 条
  • [21] Identification of a novel CACNA1A mutation in a Taiwanese family with episodic ataxia
    Lin, W. Y.
    Huang, C. L.
    Lia, S. C.
    Yeh, T. H.
    Lu, C. S.
    MOVEMENT DISORDERS, 2013, 28 : S251 - S251
  • [22] A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia
    Jen, J
    Yue, Q
    Nelson, SF
    Yu, H
    Litt, M
    Nutt, J
    Baloh, RW
    NEUROLOGY, 1999, 53 (01) : 34 - 37
  • [23] Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
    Cèlia Sintas
    Oriel Carreño
    Noèlia Fernàndez-Castillo
    Roser Corominas
    Marta Vila-Pueyo
    Claudio Toma
    Ester Cuenca-León
    Isabel Barroeta
    Carles Roig
    Víctor Volpini
    Alfons Macaya
    Bru Cormand
    Scientific Reports, 7
  • [24] Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
    Sintas, Celia
    Carreno, Oriel
    Fernandez-Castillo, Noelia
    Corominas, Roser
    Vila-Pueyo, Marta
    Toma, Claudio
    Cuenca-Leon, Ester
    Barroeta, Isabel
    Roig, Carles
    Volpini, Victor
    Macaya, Alfons
    Cormand, Bru
    SCIENTIFIC REPORTS, 2017, 7
  • [25] 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
  • [26] Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2
    Scoggan, KA
    Chandra, T
    Nelson, R
    Hahn, AF
    Bulman, DE
    JOURNAL OF MEDICAL GENETICS, 2001, 38 (04) : 249 - 253
  • [27] Episodic Ataxia Type 2: a Previously Undescribed Variant in the CACNA1A Gene
    Chunga, N.
    Minks, K.
    Morrison, P.
    MOVEMENT DISORDERS, 2023, 38 : S320 - S320
  • [28] 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
  • [29] 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
  • [30] Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene
    Cuenca-Leon, Ester
    Banchs, Isabel
    Serra, Selma A.
    Latorre, Pilar
    Fernandez-Castillo, Noelia
    Corominas, Roser
    Valverde, Miguel A.
    Volpini, Victor
    Fernandez-Fernandez, Jose M.
    Macaya, Alfons
    Cormand, Bru
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 280 (1-2) : 10 - 14