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
  • [31] Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia
    Hormos Salimi Dafsari
    Rosanne Sprute
    Gilbert Wunderlich
    Hülya-Sevcan Daimagüler
    Ezgi Karaca
    Adriana Contreras
    Kerstin Becker
    Mira Schulze-Rhonhof
    Karl Kiening
    Tülay Karakulak
    Manja Kloss
    Annette Horn
    Amande Pauls
    Peter Nürnberg
    Janine Altmüller
    Holger Thiele
    Birgit Assmann
    Anne Koy
    Sebahattin Cirak
    Journal of Human Genetics, 2019, 64 : 803 - 813
  • [32] Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study
    Carecchio, Miryam
    Invernizzi, Federica
    Gonzalez-Latapi, Paulina
    Panteghini, Celeste
    Zorzi, Giovanna
    Romito, Luigi
    Leuzzi, Vincenzo
    Galosi, Serena
    Reale, Chiara
    Zibordi, Federica
    Joseph, Agnel P.
    Topf, Maya
    Piano, Carla
    Bentivoglio, Anna Rita
    Girotti, Floriano
    Morana, Paolo
    Morana, Benedetto
    Kurian, Manju A.
    Garavaglia, Barbara
    Mencacci, Niccolo E.
    Lubbe, Steven J.
    Nardocci, Nardo
    MOVEMENT DISORDERS, 2019, 34 (10) : 1516 - 1527
  • [33] Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia
    Dafsari, Hormos Salimi
    Sprute, Rosanne
    Wunderlich, Gilbert
    Daimagueler, Huelya-Sevcan
    Karaca, Ezgi
    Contreras, Adriana
    Becker, Kerstin
    Schulze-Rhonhof, Mira
    Kiening, Karl
    Karakulak, Tulay
    Kloss, Manja
    Horn, Annette
    Pauls, Amande
    Nuernberg, Peter
    Altmueller, Janine
    Thiele, Holger
    Assmann, Birgit
    Koy, Anne
    Cirak, Sebahattin
    JOURNAL OF HUMAN GENETICS, 2019, 64 (08) : 803 - 813
  • [34] KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes
    Barbagiovanni, Giulia
    Germain, Pierre-Luc
    Zech, Michael
    Atashpaz, Sina
    Lo Riso, Pietro
    D'Antonio-Chronowska, Agnieszka
    Tenderini, Erika
    Caiazzo, Massimiliano
    Boesch, Sylvia
    Jech, Robert
    Haslinger, Bernhard
    Broccoli, Vania
    Stewart, Adrian Francis
    Winkelmann, Juliane
    Testa, Giuseppe
    CELL REPORTS, 2018, 25 (04): : 988 - 1001
  • [35] Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
    Meyer, Esther
    Carss, Keren J.
    Rankin, Julia
    Nichols, John M. E.
    Grozeva, Detelina
    Joseph, Agnel P.
    Mencacci, Niccolo E.
    Papandreou, Apostolos
    Ng, Joanne
    Barra, Serena
    Ngoh, Adeline
    Ben-Pazi, Hilla
    Willemsen, Michel A.
    Arkadir, David
    Barnicoat, Angela
    Bergman, Hagai
    Bhate, Sanjay
    Boys, Amber
    Darin, Niklas
    Foulds, Nicola
    Gutowski, Nicholas
    Hills, Alison
    Houlden, Henry
    Hurst, Jane A.
    Israe, Zvi
    Kaminska, Margaret
    Limousin, Patricia
    Lumsden, Daniel
    Mckee, Shane
    Misra, Shibalik
    Mohammed, Shekeeb S.
    Nakou, Vasiliki
    Nicolai, Joost
    Nilsson, Magnus
    Pall, Hardev
    Peall, Kathryn J.
    Peters, Gregory B.
    Prabhakar, Prab
    Reuter, Miriam S.
    Rump, Patrick
    Sege, Reeval
    Sinnema, Margje
    Smith, Martin
    Turnpenny, Peter
    White, Susan M.
    Wieczorek, Dagmar
    Wiethoff, Sarah
    Wilson, Brian T.
    Winter, Gidon
    Wragg, Christopher
    NATURE GENETICS, 2017, 49 (02) : 223 - 237
  • [36] Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
    Esther Meyer
    Keren J Carss
    Julia Rankin
    John M E Nichols
    Detelina Grozeva
    Agnel P Joseph
    Niccolo E Mencacci
    Apostolos Papandreou
    Joanne Ng
    Serena Barral
    Adeline Ngoh
    Hilla Ben-Pazi
    Michel A Willemsen
    David Arkadir
    Angela Barnicoat
    Hagai Bergman
    Sanjay Bhate
    Amber Boys
    Niklas Darin
    Nicola Foulds
    Nicholas Gutowski
    Alison Hills
    Henry Houlden
    Jane A Hurst
    Zvi Israel
    Margaret Kaminska
    Patricia Limousin
    Daniel Lumsden
    Shane McKee
    Shibalik Misra
    Shekeeb S Mohammed
    Vasiliki Nakou
    Joost Nicolai
    Magnus Nilsson
    Hardev Pall
    Kathryn J Peall
    Gregory B Peters
    Prab Prabhakar
    Miriam S Reuter
    Patrick Rump
    Reeval Segel
    Margje Sinnema
    Martin Smith
    Peter Turnpenny
    Susan M White
    Dagmar Wieczorek
    Sarah Wiethoff
    Brian T Wilson
    Gidon Winter
    Christopher Wragg
    Nature Genetics, 2017, 49 : 223 - 237
  • [37] MECHANISM OF HEPATOCARCINOGENESIS DUE TO HEPATITIS B VIRUS GENOME INTEGRATION INTO HOST KMT2B LOCUS
    Tsuchiya, Jun
    Miyoshi, Masato
    Kakinuma, Sei
    Shimizu, Taro
    Watakabe, Keiya
    Mochida, Tomohiro
    Inada, Kento
    Kaneko, Shun
    Kawai-Kitahata, Fukiko
    Nitta, Sayuri
    Murakawa, Miyako
    Nakagawa, Mina
    Asahina, Yasuhiro
    Okamoto, Ryuichi
    HEPATOLOGY, 2024, 80
  • [38] A severe case of status dystonicus caused by a de novo KMT2B missense mutation
    Nakamura, Sadao
    Chinen, Yasutsugu
    Satou, Kazuhito
    Tokashiki, Takashi
    Kumada, Satoko
    Yanagi, Kumiko
    Kaname, Tadashi
    Naritomi, Kenji
    Nakanishi, Koichi
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (11)
  • [39] KMT2B-Related Dystonia: Challenges in Diagnosis and Treatment
    Aksoy, Ayse
    Koken, Ozlem Yayici
    Ceylan, Ahmet Cevdet
    Dedeoglu, Ozge Toptas
    MOLECULAR SYNDROMOLOGY, 2021, : 159 - 164
  • [40] Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia
    Hormos Salimi Dafsari
    Rosanne Sprute
    Gilbert Wunderlich
    Hülya-Sevcan Daimagüler
    Ezgi Karaca
    Adriana Contreras
    Kerstin Becker
    Mira Schulze-Rhonhof
    Karl Kiening
    Tülay Karakulak
    Manja Kloss
    Annette Horn
    Amande Pauls
    Peter Nürnberg
    Janine Altmüller
    Holger Thiele
    Birgit Assmann
    Anne Koy
    Sebahattin Cirak
    Journal of Human Genetics, 2019, 64 : 1051 - 1054