CAMK4-related Case of Hyperkinetic Movement Disorder

被引：1
作者：
Alawneh, Issa [1 ]
Amburgey, Kimberley [2 ,3 ]
Gonorazky, Hernan [1 ,4 ]
Gorodetsky, Carolina [5 ,6 ]
机构：
[1] Hosp Sick Children, Div Neurol, Toronto, ON, Canada
[2] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Neurol, Toronto, ON, Canada
[3] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada
[4] Univ Toronto, Hosp Sick Children, Program Genet & Genome Biol, Dept Pediat,Div Neurol, Toronto, ON, Canada
[5] Univ Toronto, Dept Pediat, Toronto, ON, Canada
[6] Univ Toronto, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
来源：
MOVEMENT DISORDERS CLINICAL PRACTICE | 2023年 / 10卷 / 04期
关键词：
CAMK4; chorea; dystonia; developmental delay;
D O I：
10.1002/mdc3.13702
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：707 / 709
页数：3
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共 8 条
  • [1] Regulation and function of the calcium/calmodulin-dependent protein kinase IV/protein serine/threonine phosphatase 2A signaling complex
    Anderson, KA
    Noeldner, PK
    Reece, K
    Wadzinski, BE
    Means, AR
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (30) : 31708 - 31716
  • [2] De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
    Kury, Sebastien
    van Woerden, Geeske M.
    Besnard, Thomas
    Onori, Martina Proietti
    Latypova, Xenia
    Towne, Meghan C.
    Cho, Megan T.
    Prescott, Trine E.
    Ploeg, Melissa A.
    Sanders, Stephan
    Stessman, Holly A. F.
    Pujol, Aurora
    Ben Distel
    Robak, Laurie A.
    Bernstein, Jonathan A.
    Denomme-Pichon, Anne-Sophie
    Lesca, Gaetan
    Sellars, Elizabeth A.
    Berg, Jonathan
    Carre, Wilfrid
    Busk, Oyvind Lovold
    van Bon, Bregje W. M.
    Waugh, Jeff L.
    Deardorff, Matthew
    Hoganson, George E.
    Bosanko, Katherine B.
    Johnson, Diana S.
    Dabir, Tabib
    Holla, Oystein Lunde
    Sarkar, Ajoy
    Tveten, Kristian
    de Bellescize, Julitta
    Braathen, Geir J.
    Terhal, Paulien A.
    Grange, Dorothy K.
    van Haeringen, Arie
    Lam, Christina
    Mirzaa, Ghayda
    Burton, Jennifer
    Bhoj, Elizabeth J.
    Douglas, Jessica
    Santani, Avni B.
    Nesbitt, Addie I.
    Helbig, Katherine L.
    Andrews, Marisa V.
    Begtrup, Amber
    Tang, Sha
    van Gassen, Koen L. I.
    Juusola, Jane
    Foss, Kimberly
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (05) : 768 - 788
  • [3] Convergent CaMK and RacGEF signals control dendritic structure and function
    Penzes, Peter
    Cahill, Michael E.
    Jones, Kelly A.
    Srivastava, Deepak P.
    [J]. TRENDS IN CELL BIOLOGY, 2008, 18 (09) : 405 - 413
  • [4] Ca2+/calmodulin-dependent protein kinases
    Swulius, M. T.
    Waxham, M. N.
    [J]. CELLULAR AND MOLECULAR LIFE SCIENCES, 2008, 65 (17) : 2637 - 2657
  • [5] Calmodulin kinases: essential regulators in health and disease
    Takemoto-Kimura, Sayaka
    Suzuki, Kanzo
    Horigane, Shin-Ichiro
    Kamijo, Satoshi
    Inoue, Masatoshi
    Sakamoto, Masayuki
    Fujii, Hajime
    Bito, Haruhiko
    [J]. JOURNAL OF NEUROCHEMISTRY, 2017, 141 (06) : 808 - 818
  • [6] A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants
    Zech, Michael
    Bardakjian, Tanya M.
    Stoklosa, Malgorzata
    Ploski, Rafal
    Jech, Robert
    Gonzalez-Alegre, Pedro
    Winkelmann, Juliane
    [J]. MOVEMENT DISORDERS, 2021, 36 (02) : 520 - 521
  • [7] Monogenic variants in dystonia: an exome-wide sequencing study
    Zech, Michael
    Jech, Robert
    Boesch, Sylvia
    Skorvanek, Matej
    Weber, Sandrina
    Wagner, Matias
    Zhao, Chen
    Jochim, Angela
    Necpal, Jan
    Dincer, Yasemin
    Vill, Katharina
    Distelmaier, Felix
    Stoklosa, Malgorzata
    Krenn, Martin
    Grunwald, Stephan
    Bock-Bierbaum, Tobias
    Fecikova, Anna
    Havrankova, Petra
    Roth, Jan
    Prihodova, Iva
    Adamovicova, Miriam
    Ulmanova, Olga
    Bechyne, Karel
    Danhofer, Pavlina
    Vesely, Branislav
    Han, Vladimir
    Pavelekova, Petra
    Gdovinova, Zuzana
    Mantel, Tobias
    Meindl, Tobias
    Sitzberger, Alexandra
    Schroeder, Sebastian
    Blaschek, Astrid
    Roser, Timo
    Bonfert, Michaefa, V
    Haberlandt, Edda
    Plecko, Barbara
    Leineweber, Birgit
    Berweck, Steffen
    Herberhold, Thomas
    Langguth, Berthold
    Svantnerova, Jana
    Minar, Michal
    Ramos-Rivera, Gonzalo Alonso
    Wojcik, Monica H.
    Pajusalu, Sander
    Ounap, Katrin
    Schatz, Ulrich A.
    Poelsler, Laura
    Milenkovic, Ivan
    [J]. LANCET NEUROLOGY, 2020, 19 (11) : 908 - 918
  • [8] A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder
    Zech, Michael
    Lam, Daniel D.
    Weber, Sandrina
    Berutti, Riccardo
    Polakova, Kamila
    Havrankova, Petra
    Fecikova, Anna
    Strom, Tim M.
    Ruzicka, Evzen
    Jech, Robert
    Winkelmann, Juliane
    [J]. COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2018, 4 (06):
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