• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to project page

2022 Fiscal Year Annual Research Report

Elucidate the neural mechanisms underlying sleep disturbances in neurodevelopmental disorders-focusing on CDKL5 deficiency disorder-

Research Project

Project/Area Number 20K06738
Research InstitutionUniversity of Tsukuba

Principal Investigator

曹 麗琴  筑波大学, 国際統合睡眠医科学研究機構, 助教 (60399475)

Project Period (FY) 2020-04-01 – 2023-03-31
KeywordsCDKL5 / 睡眠 / マウス / 神経発達障害 / 脳・神経 / 遺伝学
Outline of Annual Research Achievements

CDKL5 deficiency disorder (CDD) is a devastating neurodevelopmental disorder caused by pathogenic mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene. More than 86% of patients have severe sleep problems, which greatly affect the quality of life for patients and their families. However, little is known about the neuronal mechanism underlying the sleep disturbances in CDD.
In this year we conducted sleep analysis in excitatory/inhibitory neuron-specific Cdkl5 conditional knockout (cKO) mice, respectively. Additionally, we for the first time analyzed sleep disturbances in a novel mouse model, which carries a mutation mimicking a human CDD lost-of-function missense mutation. The results complement existing Cdkl5 KO mouse models of sleep disturbances in future mechanistic and translational studies.

  • Research Products

    (3 results)

All 2023 2022

All Presentation (3 results) (of which Int'l Joint Research: 3 results,  Invited: 1 results)

  • [Presentation] Sleep disturbances in mice with a CDKL5 kinase-dead missense mutation, a novel mouse model of neurodevelopmental disorder2023

    • Author(s)
      Liqin Cao, Xin Zhang, Tingting Lou, Teruyuki Tanaka, Qinghua Liu, Hiromasa Funato, Masashi Yanagisawa
    • Organizer
      The 11th Annual WPI-IIIS Symposium ~Deciphering the Mysteries of Instinctive Behaviors~
    • Int'l Joint Research
  • [Presentation] Sleep disturbances in a mouse model of CDKL5 deficiency disorder2023

    • Author(s)
      Liqin Cao, Tingting Lou, Xin Zhang, Jing Ma, Zhiqiang Wang, Teruyuki Tanaka, Hiromasa Funato, Qinghua Liu, Masashi Yanagisawa
    • Organizer
      36th International Mammalian Genome conference
    • Int'l Joint Research
  • [Presentation] The natural history of epilepsy in CDKL5 KO mouse models2022

    • Author(s)
      Liqin Cao
    • Organizer
      2022 CDKL5 Forum
    • Int'l Joint Research / Invited

URL: 

Published: 2023-12-25  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi