{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:16Z","timestamp":1772160076451,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,1,3]],"date-time":"2024-01-03T00:00:00Z","timestamp":1704240000000},"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":["82301639"],"award-info":[{"award-number":["82301639"]}],"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":["82271505"],"award-info":[{"award-number":["82271505"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>CCDC88C<\/jats:italic>\n                    gene, which encodes coiled\u2010coil domain containing 88C, is essential for cell communication during neural development. Variants in the\n                    <jats:italic>CCDC88C<\/jats:italic>\n                    caused congenital hydrocephalus, some accompanied by seizures. In patients with epilepsy without acquired etiologies, we performed whole\u2010exome sequencing (trio\u2010based). Two de novo and two biallelic\n                    <jats:italic>CCDC88C<\/jats:italic>\n                    variants were identified in four cases with focal (partial) epilepsy. These variants did not present or had low frequencies in the\u00a0gnomAD populations and were predicted to be damaging by multiple computational algorithms. Patients with de novo variants presented with adult\u2010onset epilepsy, whereas patients with biallelic variants displayed infant\u2010onset epilepsy. They all responded well to anti\u2010seizure medications and were seizure\u2010free. Further analysis showed that de novo variants were located at crucial domains, whereas one paired biallelic variants were located outside the crucial domains, and the other paired variant had a non\u2010classical splicing and a variant located at crucial domain, suggesting a sub\u2010molecular effect.\n                    <jats:italic>CCDC88C<\/jats:italic>\n                    variants associated with congenital hydrocephalus were all truncated, whereas epilepsy\u2010associated variants were mainly missense, the proportion of which was significantly higher than that of congenital hydrocephalus\u2010associated variants.\n                    <jats:italic>CCDC88C<\/jats:italic>\n                    is potentially associated with focal epilepsy with favorable outcome. The underlying mechanisms of phenotypic variation may correlation between genotype and phenotype.\n                  <\/jats:p>","DOI":"10.1111\/cge.14476","type":"journal-article","created":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T01:15:21Z","timestamp":1704330921000},"page":"397-405","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>\n                      <i>CCDC88C<\/i>\n                    <\/scp>\n                    variants are associated with focal epilepsy and genotype\u2013phenotype correlation"],"prefix":"10.1111","volume":"105","author":[{"given":"Yu\u2010Jie","family":"Chen","sequence":"first","affiliation":[{"name":"Institute of Neuroscience of Guangzhou Medical University and Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China  Guangzhou Guangdong China"},{"name":"Department of Neurology the Affiliated Nanhua Hospital, Hengyang Medical School, University of South China  Hengyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen\u2010Jie","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology Lanzhou University Second Hospital  Lanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong\u2010Fang","family":"Zou","sequence":"additional","affiliation":[{"name":"Epilepsy Center and Department of Neurology, Shenzhen Children's Hospital Shantou University Medical College  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun\u2010Xia","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Center Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital)  Jinan Shandong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei\u2010Yan","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Critical Care 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