{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:17:15Z","timestamp":1790806635306,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,11,7]],"date-time":"2022-11-07T00:00:00Z","timestamp":1667779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Focal cortical dysplasia type 2 (FCD2) is a malformation of cortical development that constitutes a common cause of pediatric focal epilepsy. Germline or somatic variants in the mammalian target of rapamycin (mTOR) signaling pathway genes are the pathogenesis of FCD2.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>In this study, whole\u2010exome deep sequencing was performed on dysplastic cortex from focal epilepsy in children to explore genetic characteristics in FCD2.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Resected core lesions of FCD2 were confirmed by pathology, and peripheral blood was collected from 11 patients. Deep whole\u2010exome sequencing (&gt;500X) was performed on derived genomic DNA, germline, or somatic variants in brain\u2010specific genes were analyzed and identified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In 11 patients, a heterozygous likely pathogenic germline variant of DEPDC5 was identified in one case, while somatic variants were found in four brain samples. The frequencies of the somatic variant allele were 2.52%\u20135.12%. Somatic variants in\n                      <jats:italic>AKT3<\/jats:italic>\n                      ,\n                      <jats:italic>TSC2,<\/jats:italic>\n                      and\n                      <jats:italic>MTOR<\/jats:italic>\n                      (mTOR signaling pathway genes) were found in three samples. Besides, one somatic variant was detected in\n                      <jats:italic>MED12<\/jats:italic>\n                      which has not been reported to associate with FCD2.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our study expanded the variant spectrum in the mTOR\u2010GATOR pathway, and also detected a somatic variant in\n                      <jats:italic>MED12<\/jats:italic>\n                      which was potentially associated with FCD 2.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.2086","type":"journal-article","created":{"date-parts":[[2022,11,7]],"date-time":"2022-11-07T07:35:27Z","timestamp":1667806527000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole\u2010exome sequencing"],"prefix":"10.1002","volume":"10","author":[{"given":"Yan","family":"Xu","sequence":"first","affiliation":[{"name":"Department of Neurology and Epilepsy Center Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin\u2010hua","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Epilepsy Center Children's Hospital of Fudan University  Shanghai 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