{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:03:22Z","timestamp":1787162602784,"version":"build-2736575974"},"reference-count":33,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,6,7]],"date-time":"2022-06-07T00:00:00Z","timestamp":1654560000000},"content-version":"vor","delay-in-days":67,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>Objective.<\/jats:italic>\n                    Developmental and epileptic encephalopathy (DEE) is characterized by refractory seizures, developmental delay or intellectual disability, which may be caused by gene mutation. In this study, we explored the clinical phenotype and long\u2010term outcome in children with genetic early\u2010infantile\u2010onset DEEs.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Methods.<\/jats:italic>\n                    Next\u2010generation sequencing was performed on 470 patients diagnosed with early\u2010infantile\u2010onset DEE between 2010 and 2020. The genetic variation in all cases was classified and evaluated to identify pathogenic variants. The identified variants were further verified by Sanger sequencing.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Results.<\/jats:italic>\n                    A total of 118 and 10 patients were found to have putative disease\u2010causing gene mutations and copy number variations, respectively.\n                    <jats:italic>SCN1A<\/jats:italic>\n                    mutations were detected in 38 patients (38\/118, 32.2%), representing the largest proportion. In patients with early\u2010infantile\u2010onset DEE with burst suppression,\n                    <jats:italic>KCNQ2<\/jats:italic>\n                    mutation was found in six patients, and the remaining mutations were reported in\n                    <jats:italic>SCN2A<\/jats:italic>\n                    (\n                    <jats:italic>n<\/jats:italic>\n                    =2) and\n                    <jats:italic>STXBP1<\/jats:italic>\n                    (\n                    <jats:italic>n<\/jats:italic>\n                    =1). Seven patients with dyskinesia were described. In patients with non\u2010syndromic genetic early\u2010infantile\u2010onset DEEs, we detected possible rare pathogenic variants in\n                    <jats:italic>SETBP1, DPYD, CSNK2B<\/jats:italic>\n                    , and\n                    <jats:italic>H3F3A.<\/jats:italic>\n                    With regards to inheritance pattern,\n                    <jats:italic>de novo<\/jats:italic>\n                    heterozygous mutations accounted for the majority (104\/118; 88.1%). Three patients with\n                    <jats:italic>SMC1A<\/jats:italic>\n                    mutations responded well to ketogenic diet add\u2010on therapy. Addition of valproic acid showed good therapeutic effects against\n                    <jats:italic>KCNB1<\/jats:italic>\n                    and\n                    <jats:italic>PACS2<\/jats:italic>\n                    encephalopathy.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Significance.<\/jats:italic>\n                    We detected four possible rare pathogenic gene variants as non\u2010syndromic genetic causes of early\u2010infantile\u2010onset DEEs. Although early\u2010infantile\u2010onset DEEs responded poorly to antiseizure medication treatment, we found that specific antiseizure medications showed good therapeutic effects in some patients with early\u2010infantile\u2010onset DEEs harbouring gene variants.\n                  <\/jats:p>","DOI":"10.1684\/epd.2021.1394","type":"journal-article","created":{"date-parts":[[2022,5,21]],"date-time":"2022-05-21T02:41:35Z","timestamp":1653100895000},"page":"343-352","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Phenotypic spectrum and long\u2010term outcome of children with genetic early\u2010infantile\u2010onset developmental and epileptic encephalopathy"],"prefix":"10.1002","volume":"24","author":[{"given":"Chunhui","family":"Hu","sequence":"first","affiliation":[{"name":"Department of Neurology Children's Hospital of Fudan University Shanghai 201102 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deying","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology Wuhan Children's hospital, Tongji Medical College, Huazhong University of Science &amp; Technology Wuhan 430016 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tian","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Fudan University Shanghai 201102 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Fudan University Shanghai 201102 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhisheng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science &amp; 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