{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T20:20:13Z","timestamp":1789244413688,"version":"build-2803163510"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T00:00:00Z","timestamp":1742774400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81971203"],"award-info":[{"award-number":["81971203"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271489"],"award-info":[{"award-number":["82271489"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2018A030313345"],"award-info":[{"award-number":["2018A030313345"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2021A1515011275"],"award-info":[{"award-number":["2021A1515011275"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2022A1515011505"],"award-info":[{"award-number":["2022A1515011505"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020084","name":"Guangzhou Municipal Science and Technology Bureau","doi-asserted-by":"publisher","award":["202206010028"],"award-info":[{"award-number":["202206010028"]}],"id":[{"id":"10.13039\/501100020084","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2503800"],"award-info":[{"award-number":["2022YFC2503800"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2025,6]]},"abstract":"Abstract<\/jats:title>\n \n Objective<\/jats:title>\n \n NRXN1<\/jats:italic>\n microdeletions are associated with an increased genetic risk for various neuropsychiatric disorders, with diverse breakpoints complicating research, diagnosis, and treatment. This study aims to investigate the deletion rate and penetrance of\n NRXN1<\/jats:italic>\n microdeletions across different clinical phenotypes through meta\u2010analysis while exploring their relationship with epilepsy and summarizing the characteristics of\n NRXN1<\/jats:italic>\n biallelic variations.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n For meta\u2010analysis, a systematic review of published studies was conducted to calculate\n NRXN1<\/jats:italic>\n microdeletion rates and penetrance across different disorders, with comparisons to control groups. For systematic review, data from 401 cases across 57 studies were analyzed to compare microdeletion characteristics in patients with and without epilepsy, alongside a review of\n NRXN1<\/jats:italic>\n biallelic variation clinical features.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n NRXN1<\/jats:italic>\n microdeletion carriers had a 3.20\u2010fold higher disease risk compared to noncarriers. The deletion rate was elevated in patients with autism, schizophrenia, and Tourette syndrome relative to controls. Additionally,\n NRXN1<\/jats:italic>\n microdeletions were more prevalent in epilepsy patients with comorbidities than in those with epilepsy alone. Among epilepsy patients, 81.3% had comorbidities. Deletions involving exons 1\u20136 were more frequent in patients with epilepsy, of whom 71.42% were diagnosed with genetic generalized epilepsy (GGE). Among those with\n NRXN1<\/jats:italic>\n biallelic variations, 53.84% had epilepsy, and all experienced generalized seizures.\n <\/jats:p>\n <\/jats:sec>\n \n Significance<\/jats:title>\n \n Understanding genotype\u2013phenotype associations in\n NRXN1<\/jats:italic>\n microdeletion\u2010related diseases is critical for early diagnosis and management. Our study shows that\n NRXN1<\/jats:italic>\n microdeletions have been associated with various neuropsychiatric disorders and exhibit incomplete penetrance. In epilepsy, patients with\n NRXN1<\/jats:italic>\n microdeletions are associated with mental comorbidities and generalized seizure types, particularly involving exon 1\u20136 deletions, and are common in patients with GGE.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/epi.18337","type":"journal-article","created":{"date-parts":[[2025,3,25]],"date-time":"2025-03-25T19:18:18Z","timestamp":1742930298000},"page":"2022-2035","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical phenotypic spectrum of\n \n NRXN1<\/i>\n <\/scp>\n microdeletions and their association with epilepsy: A systematic review and meta\u2010analysis"],"prefix":"10.1111","volume":"66","author":[{"given":"Xintong","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital, Sun Yat\u2010Sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-2296-9355","authenticated-orcid":false,"given":"Chengzhe","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital, Sun Yat\u2010Sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dingju","family":"Long","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital, Sun Yat\u2010Sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heyu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital, Sun Yat\u2010Sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sijing","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital, Sun Yat\u2010Sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology Guangzhou China"},{"name":"Department of Neurology The Seventh Affiliated Hospital, Sun Yat\u2010Sen University Shenzhen 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