An atypical case of early-onset dystonia with a novel missense variant in KMT2B

被引：10
|
作者：
Zhou, Xin-Yue [1 ]
Wu, Jian-Jun [1 ]
Sun, Yi-Min [1 ]
机构：
[1] Fudan Univ, Huashan Hosp, Dept & Inst Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China
来源：
PARKINSONISM & RELATED DISORDERS | 2019年 / 63卷
关键词：
Dystonia; KMT2B; Gene; De novo;
D O I：
10.1016/j.parkreldis.2018.09.020
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：224 / 226
页数：3
相关论文
共 50 条
  • [41] Identification of Novel KMT2B Variants in Chinese Dystonia Patients via Whole-Exome Sequencing
    Ma, Jun
    Wang, Lin
    Yang, Yingmai
    Li, Shanglin
    Wan, Xinhua
    FRONTIERS IN NEUROLOGY, 2019, 10
  • [42] Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor ability
    Kawarai, T.
    Miyamoto, R.
    Mure, H.
    Morigaki, R.
    Oki, R.
    Orlacchio, A.
    Koichihara, R.
    Nakagawa, E.
    Sakamoto, T.
    Izumi, Y.
    Goto, S.
    Kaji, R.
    MOVEMENT DISORDERS, 2017, 32
  • [43] Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variants
    Li, Xin-yao
    Dai, Li-fang
    Wan, Xin-hua
    Guo, Yi
    Dai, Yi
    Li, Shang-lin
    Fang, Fang
    Wang, Xiao-hui
    Zhang, Wei-hua
    Liu, Ting-hong
    Xie, Zi-hang
    Fang, Tie
    Wang, Lin
    Ding, Chang-hong
    PARKINSONISM & RELATED DISORDERS, 2020, 77 : 76 - 82
  • [44] Pallidal Deep Brain Stimulation for KMT2B Related Dystonia in An Indian Patient
    Rajan, Roopa
    Garg, Kanwaljeet
    Saini, Arti
    Kumar, Mukesh
    Binukumar, B. K.
    Scaria, Vinod
    Aggarwal, Rajeev
    Gupta, Anu
    Vishnu, V. Y.
    Garg, Ajay
    Singh, Mamta Bhushan
    Bhatia, Rohit
    Srivastava, Achal K.
    Srivastava, M. V. Padma
    Singh, Manmohan
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2021, 24 (04) : 586 - 588
  • [45] KMT2B episignature analysis identifies a probably hypomorphic missense variant in a family with dystonic and non-dystonic phenotypes
    Siegert, S.
    Schmidt, W.
    Freilinger, M.
    Winkelmann, J.
    Mirza-Schreiber, N.
    Oexle, K.
    Zech, M.
    MOVEMENT DISORDERS, 2022, 37 : S273 - S273
  • [46] Early-onset absence epilepsy and photoparoxysmal EEG response related to a novel missense YWHAG variant
    Quaranta, C. A.
    Varesio, C.
    Celario, M.
    Ferraro, F.
    Pasca, L.
    Zanaboni, M.
    Papalia, G.
    De Giorgis, V.
    EPILEPSIA, 2023, 64 : 545 - 545
  • [47] A novel family with an unusual early-onset generalized dystonia
    Fabbrini, G
    Brancati, F
    Vacca, L
    Valente, EM
    Nemeth, A
    Meesaq, A
    Sykes, N
    Dallapiccola, B
    Berardelli, A
    MOVEMENT DISORDERS, 2005, 20 (01) : 81 - 86
  • [48] Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
    Chrysoula Marogianni
    Despoina Georgouli
    Katerina Dadouli
    Panagiotis Ntellas
    Dimitrios Rikos
    Georgios M. Hadjigeorgiou
    Cleanthi Spanaki
    Georgia Xiromerisiou
    Molecular Biology Reports, 2021, 48 : 371 - 379
  • [49] Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients
    Ramon-Gomez, Jorge L.
    Bernal-Pacheco, Oscar
    Zarante-Bahamon, Ana M.
    Martinez-Cordoba, Natalia
    Lince-Rivera, Isabella
    REVISTA DE NEUROLOGIA, 2024, 78 (10) : 285 - 291
  • [50] EXPANDING THE MUTATIONAL SPECTRUM OF KMT2B GENE: SIX NOVEL VARIANTS AND TWO CASES WITH ATYPICAL PRESENTATIONS
    Lopes, Alexandra
    Sousa, Susana
    Lopes, Ana
    Silva, Paulo
    Morais, Sara
    Brandao, Ana Filipa
    Lopes, Fatima
    Bastos-Ferreira, Rita
    Santos, Mariana
    Jorge, Andre
    Januario, Cristina
    Costa, Henrique Moniz
    Bras, Ana Catarina
    Quental, Rita
    Leao, Miguel
    Damasio, Joana
    Magalhaes, Marina
    Freixo, Joao Parente
    Sequeiros, Jorge
    Oliveira, Jorge
    MEDICINE, 2022, 101 (30)
12345