{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:52:56Z","timestamp":1791903176065,"version":"4.3.4"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,2,16]],"date-time":"2017-02-16T00:00:00Z","timestamp":1487203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"985 Peking University and Clinical Hospital Cooperation Project","award":["2013-1-06"],"award-info":[{"award-number":["2013-1-06"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:p>The aim of the study is to investigate the genetic characteristics and clinical features of a cohort of Chinese patients with early\u2010onset epileptic encephalopathies (<jats:styled-content style=\"fixed-case\">EOEEs<\/jats:styled-content>). Targeted next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>), focusing on 17 genes, was performed on 175 Chinese patients with <jats:styled-content style=\"fixed-case\">EOEEs<\/jats:styled-content> to screen gene mutations. The mutation rate was 32% (56\/175). All mutations were <jats:italic>de novo<\/jats:italic> and heterozygous, including 41 novel and 15 reported mutations. Patients with cyclin\u2010dependent kinase\u2010like 5 (<jats:italic><jats:styled-content style=\"fixed-case\">CDKL5<\/jats:styled-content><\/jats:italic>) gene mutation accounted for the largest proportion, 13.1% (23\/175). All patients with <jats:italic><jats:styled-content style=\"fixed-case\">CDKL5<\/jats:styled-content><\/jats:italic> mutation presented severe psychomotor developmental delay and refractory seizures. The female patients presented obvious Rett\u2010like features, which were not observed in male patients. Potassium channel, voltage\u2010gated <jats:styled-content style=\"fixed-case\">KQT<\/jats:styled-content>\u2010like subfamily Q, member 2(<jats:italic><jats:styled-content style=\"fixed-case\">KCNQ2<\/jats:styled-content><\/jats:italic>) gene mutations were detected in 13 patients. Patients with this mutation presented with early seizure onset within the first week after birth. Valproate (<jats:styled-content style=\"fixed-case\">VPA<\/jats:styled-content>), levetiracetam (<jats:styled-content style=\"fixed-case\">LEV<\/jats:styled-content>) and topiramate (<jats:styled-content style=\"fixed-case\">TPM<\/jats:styled-content>) were effective in most patients. Patients with specific gene mutations presented some unique clinical features, but not always. Many genes are involved in <jats:styled-content style=\"fixed-case\">EOEEs<\/jats:styled-content>. Targeted <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> showed a high diagnostic yield in patients with <jats:styled-content style=\"fixed-case\">EOEEs<\/jats:styled-content>. These findings provide useful insights for recommending treatment of gene\u2010associated <jats:styled-content style=\"fixed-case\">EOEEs<\/jats:styled-content> using antiepileptic drugs.<\/jats:p>","DOI":"10.1111\/cge.12901","type":"journal-article","created":{"date-parts":[[2016,10,25]],"date-time":"2016-10-25T13:06:49Z","timestamp":1477400809000},"page":"717-724","source":"Crossref","is-referenced-by-count":64,"title":["Gene mutation analysis of 175 Chinese patients with early\u2010onset epileptic encephalopathy"],"prefix":"10.1111","volume":"91","author":[{"given":"Q.","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences Peking University  Beijing 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