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These children exhibited variable phenotypes, including variation in age of onset, seizure semiology, and response to antiseizure medications, along with neurodevelopmental disorders.<\/jats:p>\n                  <jats:p>We demonstrated that SSPOP is a functional gene by confirming its expression at both the transcriptional and protein levels. We analysed 10 brain tissue samples from seven paediatric patients and brain organoids derived from human induced pluripotent stem cells to confirm its expression via qRT-PCR, immunofluorescence and western blotting, supporting its biological function during both pre- and post-natal stages of brain development. In addition, CRISPR-mediated sspo knockout zebrafish demonstrated abnormal neurodevelopment and epileptic discharges in vivo.<\/jats:p>\n                  <jats:p>Together, these findings suggest that SSPOP is a functional gene and a potential contributor to neurodevelopmental disorders and epilepsy.<\/jats:p>","DOI":"10.1093\/brain\/awaf327","type":"journal-article","created":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T11:59:37Z","timestamp":1760097577000},"page":"1691-1703","source":"Crossref","is-referenced-by-count":1,"title":["Compound heterozygous mutations in the\n                    <i>SSPOP<\/i>\n                    gene lead to epilepsy and developmental disorders"],"prefix":"10.1093","volume":"149","author":[{"given":"Aojie","family":"Cai","sequence":"first","affiliation":[{"name":"Children\u2019s Medical Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Department of Pediatrics, Children's Hospital of the First Affiliated Hospital of Zhengzhou University , Henan 450000 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Children\u2019s Medical Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases , Beijing 102627 ,","place":["China"]},{"name":"Children Epilepsy Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Key Laboratory for Neuroscience, Ministry of Education\/National Health and Family Planning Commission, Peking University , Beijing 102627 ,","place":["China"]},{"name":"Center of Epilepsy, Beijing Institute for Brain Disorders , Beijing 102627 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinliang","family":"Li","sequence":"additional","affiliation":[{"name":"Children\u2019s Medical Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Department of Pediatrics, Central People\u2019s Hospital of Zhanjiang , Zhanjiang, Guangdong 524037 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingmin","family":"Wang","sequence":"additional","affiliation":[{"name":"Children\u2019s Medical Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases , Beijing 102627 ,","place":["China"]},{"name":"Children Epilepsy Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Key Laboratory for Neuroscience, Ministry of Education\/National Health and Family Planning Commission, Peking University , Beijing 102627 ,","place":["China"]},{"name":"Center of Epilepsy, Beijing Institute for Brain Disorders , Beijing 102627 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Wu","sequence":"additional","affiliation":[{"name":"Children\u2019s Medical Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases , Beijing 102627 ,","place":["China"]},{"name":"Children Epilepsy Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Key Laboratory for Neuroscience, Ministry of Education\/National Health and Family Planning Commission, Peking University , Beijing 102627 ,","place":["China"]},{"name":"Center of Epilepsy, Beijing Institute for Brain Disorders , Beijing 102627 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuehua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Children\u2019s Medical Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases , Beijing 102627 ,","place":["China"]},{"name":"Children Epilepsy Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Key Laboratory for Neuroscience, Ministry of Education\/National Health and Family Planning Commission, Peking University , Beijing 102627 ,","place":["China"]},{"name":"Center of Epilepsy, Beijing Institute for Brain Disorders , Beijing 102627 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Gao","sequence":"additional","affiliation":[{"name":"Children\u2019s Medical Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases , Beijing 102627 ,","place":["China"]},{"name":"Children Epilepsy Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Key Laboratory for Neuroscience, Ministry of Education\/National Health and Family Planning Commission, Peking University , Beijing 102627 ,","place":["China"]},{"name":"Center of Epilepsy, Beijing Institute for Brain Disorders , Beijing 102627 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuwu","family":"Jiang","sequence":"additional","affiliation":[{"name":"Children\u2019s Medical Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases , Beijing 102627 ,","place":["China"]},{"name":"Children Epilepsy Center, Peking University First Hospital , Beijing 102627 ,","place":["China"]},{"name":"Key Laboratory for Neuroscience, Ministry of Education\/National Health and Family Planning Commission, Peking University , Beijing 102627 ,","place":["China"]},{"name":"Center of Epilepsy, Beijing Institute for 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