A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome

被引：4
|
作者：
Hartmann, Christian Johannes [1 ]
Leube, Barbara [2 ]
Wojtecki, Lars [1 ]
Betz, Beate [2 ]
Groiss, Stefan Jun [1 ]
Bauer, Peter [3 ]
Schnitzler, Alfons [1 ]
Suedmeyer, Martin [1 ]
机构：
[1] Univ Dusseldorf, Dept Neurol, Inst Clin Neurosci & Med Psychol, D-40225 Dusseldorf, Germany
[2] Univ Dusseldorf, Dept Human Genet, D-40225 Dusseldorf, Germany
[3] Univ Tubingen, Dept Human Genet, Tubingen, Germany
来源：
JOURNAL OF NEUROLOGY | 2011年 / 258卷 / 06期
关键词：
Dystonia; Mutation Carrier; Panic Attack; Ethanol Ingestion; Regular Sequence;
D O I：
10.1007/s00415-011-5911-6
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：1186 / 1188
页数：3
相关论文
共 50 条
  • [31] Myoclonus-dystonia related to a mutation in the epsilon-sarcoglycan gene (SGCE) associated with epilepsy in a genetically proven Tunisian family
    Ben Djebara, M.
    Hizem, Y.
    Belhouane, I.
    Abdelkefi, I.
    Kacem, I.
    Gargouri, A.
    Leguern, E.
    Gouider, R.
    MOVEMENT DISORDERS, 2012, 27 : S333 - S333
  • [32] A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report
    de Leon, Meliza Angelica J.
    Rosales, Raymond L.
    Klein, Christine
    Westenberger, Ana
    BMC NEUROLOGY, 2022, 22 (01)
  • [33] Myoclonus-dystonia (DYT11) with novel SGCE mutation misdiagnosed as a primary psychiatric disorder
    Bonello, M.
    Larner, A. J.
    Alusi, S. H.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2014, 346 (1-2) : 356 - 357
  • [34] Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking moya-moya disease
    Chung, Eun Joo
    Lee, Won Yong
    Kim, Ji-Youn
    Kim, Jong-Hun
    Kim, Gyeong-Moon
    Ki, Chang Seok
    Kim, In-Suk
    MOVEMENT DISORDERS, 2007, 22 (08) : 1206 - 1207
  • [35] A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus-Dystonia
    Gultekin, Murat
    Prakash, Neha
    Ganos, Christos
    Mirza, Meral
    Bayramov, Ruston
    Bhatia, Kailash P.
    Mencacci, Niccolo E.
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2019, 6 (06): : 479 - 482
  • [36] Myoclonus-dystonia:: Detection of novel, recurrent, and de novo SGCE mutations
    Hedrich, K
    Meyer, EM
    Schüle, B
    Kock, N
    Aguiar, PD
    Wiegers, K
    Koelman, JH
    Garrels, J
    Dürr, R
    Liu, L
    Schwinger, E
    Ozelius, LJ
    Landwehrmeyer, B
    Stoessl, AJ
    Tijssen, MAJ
    Klein, C
    NEUROLOGY, 2004, 62 (07) : 1229 - 1231
  • [37] Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome
    Rachad, Laila
    El Otmani, Hicham
    Karkar, Adnane
    El Moutawakil, Bouchra
    El Kadmiri, Nadia
    Nadifi, Sellama
    NEUROSCIENCE LETTERS, 2019, 703 : 1 - 4
  • [38] A novel mutation in the epsilon-sarcoglycan gene causing atypical myoclonus-dystonia syndrome in a large Danish family
    Hjermind, LE
    Werdelin, LM
    Eiberg, H
    Krag-Olsen, B
    Dupont, E
    Soerensen, SA
    MOVEMENT DISORDERS, 2002, 17 : S273 - S273
  • [39] Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation
    Haugarvoll, Kristoffer
    Tzoulis, Charalampos
    Tran, Gia T.
    Karlsen, Bjorn
    Engelsen, Bernt A.
    Knappskog, Per M.
    Bindoff, Laurence A.
    JOURNAL OF NEUROLOGY, 2014, 261 (02) : 358 - 362
  • [40] Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant
    Alghamdi, Malak Ali
    Hamad, Muddathir H.
    Alghamdi, Isra
    Alghamdi, Ghiada
    Al-Jelaify, Muneera
    Alshimemeri, Sohaila
    Hamed, Hebattalah
    Adly, Nouran
    Salih, Mustafa A.
    Almontashiri, Naif A.
    Bashiri, Fahad A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2025, 197 (05)
12345