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Compound heterozygous mutations in the SSPOP gene lead to epilepsy and developmental disorders

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Year: 2025
Type: article
Source: Brain
DOI: 10.1093/brain/awaf327
Authors: Aojie Cai, Fan Zhang, Jinliang Li, Jingmin Wang, Ye Wu, Yuehua Zhang, Kai Gao, Yuwu Jiang
Institutions: Peking University First Hospital, First Affiliated Hospital of Zhengzhou University, Peking University, National Health and Family Planning Commission, Beijing Institute for Brain Disorders, Central People's Hospital of Zhanjiang
Language: English

Topic: Epilepsy research and treatment
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: Institut des maladies génétiques Imagine, Shanghai Key Laboratory of Clinical Geriatric Medicine, National Natural Science Foundation of China, Beijing Key Laboratory of Urinary Cellular Molecular Diagnostics, Beijing Municipal Natural Science Foundation, National Center of Excellence for Clinical Trial and Research, National Key Research and Development Program of China, Fundamental Research Funds for the Central Universities, Beijing Children's Hospital, Capital Medical University
Awards: G2199499638, G3702014317, G4738940835, G4743029251, G5766854390, G5903289571, G6186712392, G7407619694, G8044056023, G824452537, G8853083593
OpenAlex ID: W4415096368
FWCI:
Cites: 45
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