The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frederic Laumonnier, Annick Toutain, Frederique Bonnet-Brilhault, Yana Hoorne, Shelagh Joss, Anna K. Chassevent, Constance Smith-Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju G. Mehta, Wendy K. Chung, Koenraad Devriendt, Susan E. Holder, Tamison Jewett, Lauren M. BaldwinWilliam G. Wilson, Shelley Towner, Siddharth Srivastava, Hannah F. Johnson, Cornelia Daumer-Haas, Martina Baethmann, Anna Ruiz, Elisabeth Gabau, Vani Jain, Vinod Varghese, Ali Al-Beshri, Stephen Fulton, Oded Wechsberg, Naama Orenstein, Katrina Prescott, Anne-Marie Childs, Laurence Faivre, Sebastien Moutton, Jennifer A. Sullivan, Vandana Shashi, Suzanne M. Koudijs, Malou Heijligers, Emma Kivuva, Amy McTague, Alison Male, Yvette van Ierland, Barbara Plecko, Isabelle Maystadt, Rizwan Hamid, Vickie L. Hannig, Gunnar Houge*, Veerle Janssens*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Web of Science)
Original languageEnglish
Pages (from-to)352-362
Number of pages11
JournalGenetics in Medicine
Volume23
Issue number2
Early online date27 Oct 2020
DOIs
Publication statusPublished - Feb 2021

Keywords

  • PP2A
  • intellectual disability
  • neurodevelopmental disorder
  • epilepsy
  • PROTEIN PHOSPHATASE 2A
  • SUBUNIT
  • SPECIFICITY
  • PPP2R5D
  • DEPHOSPHORYLATION
  • INSIGHTS
  • FAMILY
  • CORE
  • TAU

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