Developmental dysfunction in a preclinical model of Kcnq2 developmental and epileptic encephalopathy
Our study reports on a novel Kcnq2 DEE mouse model recapitulating aspects of the disease phenotype with the electrophysiological and transcriptome analysis providing insights into KCNQ2 DEE mechanisms that can be leveraged for future therapy development.
Authors
- Miaomiao Mao (ORCID: https://orcid.org/0000-0003-2184-1506)
- Sean Byars (ORCID: https://orcid.org/0000-0002-3797-8112)
- Linghan Jia
- Phan H. Truong (ORCID: https://orcid.org/0000-0002-9964-0678)
- Ingrid Eileen Scheffer (ORCID: https://orcid.org/0000-0002-2311-2174)
- Snezana Maljevic (ORCID: https://orcid.org/0000-0003-1876-5872)
- Melody Li (ORCID: https://orcid.org/0000-0001-5320-8874)
- Ye Htet Aung (ORCID: https://orcid.org/0000-0001-9713-3587)
- Steven Petrou (ORCID: https://orcid.org/0000-0002-4960-6375)
- Christopher A. Reid (ORCID: https://orcid.org/0000-0002-1457-8028)
- Nikola Jancovski (ORCID: https://orcid.org/0000-0002-2143-3265)
- Kun Zhou (ORCID: https://orcid.org/0000-0001-7660-2911)
- Steve G. Reid
- Yafit Kushner
- Lucas Teasdale
Institutions
- The University of Melbourne (AU)
- Florey Institute of Neuroscience and Mental Health (AU)
- Austin Health (AU)
Publication Details
- Journal
- Neurobiology of Disease
- Published
- 2024-12-27
- DOI
- https://doi.org/10.1016/j.nbd.2024.106782
- Citations
- 4
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.20