{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T22:31:00Z","timestamp":1791066660905,"version":"4.1.0"},"reference-count":49,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2018,1,26]],"date-time":"2018-01-26T00:00:00Z","timestamp":1516924800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2014A030313489"],"award-info":[{"award-number":["2014A030313489"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81571274"],"award-info":[{"award-number":["81571274"]}],"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":["81571273"],"award-info":[{"award-number":["81571273"]}],"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":["81501125"],"award-info":[{"award-number":["81501125"]}],"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":["81601138"],"award-info":[{"award-number":["81601138"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Brain and Behavior"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>\n                    Epileptic encephalopathies are severe epilepsy disorders with strong genetic bases. We performed targeted next\u2010generation sequencing (NGS) in 70 patients with epileptic encephalopathies. The likely pathogenicity of variants in candidate genes was evaluated by American College of Medical Genetics and Genomics (ACMG) scoring taken together with the accepted clinical presentation. Thirty\u2010three candidate variants were detected after population filtration and computational prediction. According to ACMG, 21 candidate variants, including 18 de novo variants, were assessed to be pathogenic\/likely pathogenic with clinical concordance. Twelve variants were initially assessed as uncertain significance by ACMG, among which 3 were considered causative and 3 others were considered possibly causative after analysis of clinical concordance. In total, 24 variants were identified as putatively causative, among which 19 were novel findings.\n                    <jats:italic>SCN1A<\/jats:italic>\n                    mutations were identified in 50% of patients with Dravet syndrome.\n                    <jats:italic>TSC1<\/jats:italic>\n                    \/\n                    <jats:italic>TSC2<\/jats:italic>\n                    mutations were detected in 66.7% of patients with tuberous sclerosis.\n                    <jats:italic>STXBP1<\/jats:italic>\n                    mutations were the main findings in patients with West syndrome. Mutations in\n                    <jats:italic>SCN2A<\/jats:italic>\n                    ,\n                    <jats:italic>KCNT1<\/jats:italic>\n                    ,\n                    <jats:italic>KCNQ2<\/jats:italic>\n                    and\n                    <jats:italic>CLCN4<\/jats:italic>\n                    were identified in patients with epileptic infantile with migrating focal seizures; among them,\n                    <jats:italic>KCNQ2<\/jats:italic>\n                    and\n                    <jats:italic>CLCN4<\/jats:italic>\n                    were first identified as potential causative genes. Only one\n                    <jats:italic>CHD2<\/jats:italic>\n                    mutation was detected in patients with Lennox\u2010Gastaut syndrome. This study highlighted the utility of targeted NGS in genetic diagnoses of epileptic encephalopathies and a comprehensive evaluation of the pathogenicity of variants based on ACMG scoring and assessment of clinical concordance. Epileptic encephalopathies differ in genetic causes, and the genotype\u2010phenotype correlations would provide insights into the underlying pathogenic mechanisms.\n                  <\/jats:p>","DOI":"10.1111\/gbb.12456","type":"journal-article","created":{"date-parts":[[2018,1,4]],"date-time":"2018-01-04T05:48:54Z","timestamp":1515044934000},"source":"Crossref","is-referenced-by-count":85,"title":["Novel mutations and phenotypes of epilepsy\u2010associated genes in epileptic encephalopathies"],"prefix":"10.1111","volume":"17","author":[{"given":"P.","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Institute of Neuroscience  Guangzhou China"},{"name":"Key Laboratory of Neurogenetics Channelopathies of Guangdong Province and the Ministry of Education of China  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"He","sequence":"additional","affiliation":[{"name":"Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Institute of Neuroscience  Guangzhou China"},{"name":"Key Laboratory of Neurogenetics Channelopathies of Guangdong Province and the Ministry of Education of China  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010W.","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Guangdong General Hospital Guangdong Academy of Medical Sciences  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.\u2010J.","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Institute of Neuroscience  Guangzhou China"},{"name":"Key Laboratory of Neurogenetics Channelopathies of Guangdong Province and the Ministry of Education of China  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Institute of Neuroscience  Guangzhou China"},{"name":"Key Laboratory of Neurogenetics Channelopathies of Guangdong Province and the Ministry of Education of China  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.\u2010M.","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Institute of Neuroscience  Guangzhou China"},{"name":"Key Laboratory of Neurogenetics Channelopathies of Guangdong Province and the Ministry of Education of China  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Jinan University  Guangzhou China"},{"name":"Clinical Neuroscience Institute Jinan University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Institute of Neuroscience  Guangzhou China"},{"name":"Key Laboratory of Neurogenetics Channelopathies of Guangdong Province and the Ministry of Education of China  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.\u2010M.","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Institute of Neuroscience  Guangzhou China"},{"name":"Key Laboratory of Neurogenetics Channelopathies of Guangdong Province and the Ministry of Education of China  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.\u2010R.","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Institute of Neuroscience  Guangzhou China"},{"name":"Key Laboratory of Neurogenetics Channelopathies of Guangdong Province and the Ministry of Education of China  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.\u2010W.","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Institute of Neuroscience  Guangzhou China"},{"name":"Key Laboratory of Neurogenetics Channelopathies of Guangdong Province and the Ministry of Education of China  Guangzhou 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