SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
This study identified SPOUT1 as a novel candidate gene of DEE, which follows the autosomal-recessive inheritance pattern. IESS is the most common epilepsy syndrome. Downregulation of axonal transport-related genes, KIF3A and AP3D1, may play a crucial role in the pathogenesis of DEE.
Authors
- Taoyun Ji (ORCID: https://orcid.org/0000-0003-0098-3257)
- Kai Gao (ORCID: https://orcid.org/0000-0001-6427-2038)
- Huifang Yan (ORCID: https://orcid.org/0000-0001-7297-9228)
- Wenwei Liu (ORCID: https://orcid.org/0000-0002-1134-3194)
- Conglei Song
- Xilong Du (ORCID: https://orcid.org/0000-0001-9152-5344)
- Weiyue Gu (ORCID: https://orcid.org/0000-0003-4735-0780)
- Yuwu Jiang (ORCID: https://orcid.org/0000-0002-5179-9807)
- Lin Li (ORCID: https://orcid.org/0000-0001-8974-4636)
- Jingmin Wang (ORCID: https://orcid.org/0000-0001-5157-7262)
- Sijia Wen
- Yong Wang (ORCID: https://orcid.org/0000-0003-3595-3867)
Institutions
- Fujian Medical University (CN)
- Capital Medical University (CN)
- Peking University (CN)
- National Health and Family Planning Commission (CN)
- BeiGene (China) (CN)
- Chinese Institute for Brain Research (CN)
- Beijing National Laboratory for Molecular Sciences (CN)
- Peking University First Hospital (CN)
- Anhui Provincial Children's Hospital (CN)
- Union Hospital (US)
- Union Hospital (CN)
Publication Details
- Journal
- Acta Epileptologica
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1186/s42494-024-00185-0
- Citations
- 5
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.75
Funders
- National Natural Science Foundation of China
- Chongqing Medical University
- Beijing Municipal Social Science Foundation
- Capital Health Research and Development of Special Fund
- Key Technologies Research and Development Program
- National Key Research and Development Program of China
- Fundamental Research Funds for the Central Universities