Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family

被引：0
|
作者：
A. Roubertie
B. Echenne
J. Leydet
S. Soete
B. Krams
F. Rivier
F. Riant
E. Tournier-Lasserve
机构：
[1] Hôpital Gui de Chauliac,Service de Neuropédiatrie
[2] Hôpital Lariboisière AP-HP,Laboratoire de Génétique Moléculaire
[3] INSERM,undefined
[4] U-740,undefined
[5] Université Paris 7 Denis Diderot,undefined
来源：
Journal of Neurology | 2008年 / 255卷
关键词：
Sodium Valproate; Flunarizine; Familial Hemiplegic Migraine; Episodic Ataxia; Autosomal Dominant Cerebellar Ataxia;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：1600 / 1602
页数：2
相关论文
共 36 条
  • [1] A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy
    Vila-Pueyo, M.
    Sintas, C.
    Flotats, M.
    Gene, G.
    Elorza, X.
    Fernandez-Fernandez, J. M.
    Cormand, B.
    Macaya, A.
    JOURNAL OF HEADACHE AND PAIN, 2013, 14
  • [2] A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy
    M Vila-Pueyo
    C Sintas
    M Flotats
    G Gené
    X Elorza
    JM Fernández-Fernández
    B Cormand
    A Macaya
    The Journal of Headache and Pain, 2013, 14
  • [3] The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?
    Shin, Meyeon
    Douglass, Laurie M.
    Milunsky, Jeff M.
    Rosman, N. Paul
    JOURNAL OF CHILD NEUROLOGY, 2016, 31 (08) : 1057 - 1061
  • [4] 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
  • [5] Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A
    Blumkin, Lubov
    Leshinsky-Silver, Esther
    Michelson, Marina
    Zerem, Ayelet
    Kivity, Sara
    Lev, Dorit
    Lerman-Sagie, Tally
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2015, 19 (03) : 292 - 297
  • [6] Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature
    Nachbauer, Wolfgang
    Nocker, Michael
    Karner, Elfriede
    Stankovic, Iva
    Unterberger, Iris
    Eigentler, Andreas
    Schneider, Rainer
    Poewe, Werner
    Delazer, Margarete
    Boesch, Sylvia
    JOURNAL OF NEUROLOGY, 2014, 261 (05) : 983 - 991
  • [7] De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia
    Yue, Q
    Jen, JC
    Thwe, MM
    Nelson, SF
    Baloh, RW
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 77 (04): : 298 - 301
  • [8] A novel CACNA1A mutation results in episodic ataxia with migrainous features without headache
    Magis, Delphine
    Boon, Elles
    Coppola, Gianluca
    Daron, Aurore
    Schoenen, Jean
    CEPHALALGIA, 2012, 32 (15) : 1147 - 1149
  • [9] Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature
    Wolfgang Nachbauer
    Michael Nocker
    Elfriede Karner
    Iva Stankovic
    Iris Unterberger
    Andreas Eigentler
    Rainer Schneider
    Werner Poewe
    Margarete Delazer
    Sylvia Boesch
    Journal of Neurology, 2014, 261 : 983 - 991
  • [10] Identification of CACNA1A large deletions in four patients with episodic ataxia
    Florence Riant
    Christelle Lescoat
    Katayoun Vahedi
    Elsa Kaphan
    Annick Toutain
    Thierry Soisson
    Sylvette R. Wiener-Vacher
    Elisabeth Tournier-Lasserve
    neurogenetics, 2010, 11 : 101 - 106
1234