Haploinsufficiency of brain‐specific kinase <i>BRSK1</i> causes epilepsy and neurodevelopmental disorders
Our genomic and functional studies strongly support BRSK1 haploinsufficiency as a pathogenic mechanism in a human epilepsy syndrome. To our knowledge, this is the first study to implicate the brain-specific serine/threonine kinase BRSK1 in epilepsy and neurodevelopmental disorders.
Authors
- Bin Yang (ORCID: https://orcid.org/0000-0002-7155-6079)
- Tian Luo (ORCID: https://orcid.org/0000-0002-5305-979X)
- Hiroshi Yamanaka
- Qing Lü (ORCID: https://orcid.org/0000-0001-7717-391X)
- Yong‐hui Jiang (ORCID: https://orcid.org/0000-0001-6188-8806)
- Bo Peng (ORCID: https://orcid.org/0000-0003-4183-5939)
- Yousheng Shu (ORCID: https://orcid.org/0000-0002-2834-2876)
- Xia Miao (ORCID: https://orcid.org/0000-0002-2996-0959)
- Qi Zhang (ORCID: https://orcid.org/0000-0002-5440-6837)
- Xueyan Liu (ORCID: https://orcid.org/0000-0002-7229-2810)
- Tianqi Wang (ORCID: https://orcid.org/0000-0002-7503-602X)
- Ping Li (ORCID: https://orcid.org/0009-0000-3505-4533)
- Ting Liu (ORCID: https://orcid.org/0000-0002-0252-5332)
- Yingfeng Li (ORCID: https://orcid.org/0000-0001-7083-7269)
- Kaixian Du
- Fan He
Institutions
- Allen Institute for Brain Science (US)
- Dalian Medical University (CN)
- Fudan University (CN)
- Yale University (US)
- Second Affiliated Hospital of Dalian Medical University (CN)
- Chinese Institute for Brain Research (CN)
- Third Affiliated Hospital of Zhengzhou University (CN)
- Anhui Provincial Children's Hospital (CN)
- Children's Hospital of Fudan University (CN)
- State Key Laboratory of Medical Neurobiology
- China Medical University (CN)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-10-02
- DOI
- https://doi.org/10.1111/epi.18621
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00