Generalized Dystonia Due to KMT2B Mutation in a Patient with a Previous Diagnosis of Russell Silver Syndrome

被引:1
|
作者
Heiser, Heather [1 ]
Smith, Kaitlin [1 ]
Duis, Jessica [2 ]
Forbes, Emily [1 ]
机构
[1] Univ Colorado, Dept Neurol, Aurora, CO 80045 USA
[2] Childrens Hosp Colorado, Dept Pediat, Aurora, CO USA
来源
关键词
MATERNAL UNIPARENTAL DISOMY; MYOCLONUS-DYSTONIA; GENE;
D O I
10.1002/mdc3.13794
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:S51 / S53
页数:3
相关论文
共 50 条
  • [1] KMT2B Rare Missense Variants in Generalized Dystonia
    Zech, Michael
    Jech, Robert
    Havrankova, Petra
    Fecikova, Anna
    Berutti, Riccardo
    Urgosik, Dusan
    Kemlink, David
    Strom, Tim M.
    Roth, Jan
    Ruzicka, Evzen
    Winkelmann, Juliane
    MOVEMENT DISORDERS, 2017, 32 (07) : 1087 - 1091
  • [2] Novel, In-Frame KMT2B Deletion in a Patient With Apparently Isolated, Generalized Dystonia
    Lange, Lara M.
    Tunc, Sinem
    Tennstedt, Stephanie
    Muenchau, Alexander
    Klein, Christine
    Assmann, Birgit
    Lohmann, Katja
    MOVEMENT DISORDERS, 2017, 32 (10) : 1495 - 1497
  • [3] Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: case report
    Andrea Rangel, Yully
    Espinosa, Eugenia
    BIOMEDICA, 2022, 42 (03): : 1 - 15
  • [4] KMT2B: A New Twist in Dystonia Genetics
    Balint, Bettina
    Valente, Enza Maria
    MOVEMENT DISORDERS, 2017, 32 (04) : 529 - 529
  • [5] A Novel Mutation in KMT2B Gene Causing Childhood -onset Generalized Dystonia with Expanded Phenotype from India
    Padmanabha, Hansashree
    Awati, Akash M.
    Thomas, Kurian
    Sarma, Gosala R. K.
    NEUROLOGY INDIA, 2021, 69 (05) : 1400 - 1401
  • [6] A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing
    Grosz, Bianca R.
    Tisch, Stephen
    Tchan, Michel C.
    Fung, Victor S. C.
    Darveniza, Paul
    Fellner, Avi
    Kurian, Manju A.
    McLean, Alison
    Tomlinson, Susan E.
    Smyth, Renee
    Devery, Sophie
    Wu, Kathy H. C.
    Kennerson, Marina L.
    Kumar, Kishore R.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (05):
  • [7] 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
  • [8] Good response to bilateral GPI-DBS after 2 years in generalized dystonia due to a mutation in the KMT2B gene (DYT28)
    Garrido, A.
    Simonet, C.
    Marti, M. J.
    Perez-Duenas, B.
    Rumia, J.
    Valldeoriola, F.
    MOVEMENT DISORDERS, 2018, 33 : S318 - S319
  • [9] Novel missense variants in KMT2B in segmental dystonia
    Ma, J.
    Wan, X. H.
    MOVEMENT DISORDERS, 2018, 33 : S58 - S58
  • [10] Bilateral GPi DBS for the treatment of severe generalized genetic dystonia caused by KMT2B mutation (DYT-28)
    Lopez-Castellanos, J.
    Lotia, M.
    MOVEMENT DISORDERS, 2020, 35 : S598 - S599