{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:05:54Z","timestamp":1790744754462,"version":"4.1.0"},"reference-count":49,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,2,14]],"date-time":"2017-02-14T00:00:00Z","timestamp":1487030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009712","name":"Dravet Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009712","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006457","name":"Child Neurology Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006457","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>We sought to identify genetic causes of early onset epileptic encephalopathies with burst suppression (Ohtahara syndrome and early myoclonic encephalopathy) and evaluate genotype\u2013phenotype correlations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We enrolled 33 patients with a referral diagnosis of Ohtahara syndrome or early myoclonic encephalopathy without malformations of cortical development. We performed detailed phenotypic assessment including seizure presentation, electroencephalography, and magnetic resonance imaging. We confirmed burst suppression in 28 of 33 patients. Research\u2010based exome sequencing was performed for patients without a previously identified molecular diagnosis from clinical evaluation or a research\u2010based epilepsy gene panel.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In 17 of 28 (61%) patients with confirmed early burst suppression, we identified variants predicted to be pathogenic in\n                      <jats:italic>KCNQ2<\/jats:italic>\n                      (n\u2009=\u200910),\n                      <jats:italic>STXBP1<\/jats:italic>\n                      (n\u2009=\u20092),\n                      <jats:italic>SCN2A<\/jats:italic>\n                      (n\u2009=\u20092),\n                      <jats:italic>PNPO<\/jats:italic>\n                      (n\u2009=\u20091),\n                      <jats:italic>PIGA<\/jats:italic>\n                      (n\u2009=\u20091), and\n                      <jats:italic>SEPSECS<\/jats:italic>\n                      (n\u2009=\u20091). In 3 of 5 (60%) patients without confirmed early burst suppression, we identified variants predicted to be pathogenic in\n                      <jats:italic>STXBP1<\/jats:italic>\n                      (n\u2009=\u20092) and\n                      <jats:italic>SCN2A<\/jats:italic>\n                      (n\u2009=\u20091). The patient with the homozygous\n                      <jats:italic>PNPO<\/jats:italic>\n                      variant had a low cerebrospinal fluid pyridoxal\u20105\u2010phosphate level. Otherwise, no early laboratory or clinical features distinguished the cases associated with pathogenic variants in specific genes from each other or from those with no prior genetic cause identified.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      We characterize the genetic landscape of epileptic encephalopathy with burst suppression, without brain malformations, and demonstrate feasibility of genetic diagnosis with clinically available testing in &gt;60% of our cohort, with\n                      <jats:italic>KCNQ2<\/jats:italic>\n                      implicated in one\u2010third. This electroclinical syndrome is associated with pathogenic variation in\n                      <jats:italic>SEPSECS<\/jats:italic>\n                      . Ann Neurol 2017;81:419\u2013429\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ana.24883","type":"journal-article","created":{"date-parts":[[2017,1,30]],"date-time":"2017-01-30T04:07:42Z","timestamp":1485749262000},"page":"419-429","source":"Crossref","is-referenced-by-count":138,"title":["Genetics and genotype\u2013phenotype correlations in early onset epileptic encephalopathy with burst suppression"],"prefix":"10.1002","volume":"81","author":[{"given":"Heather E.","family":"Olson","sequence":"first","affiliation":[{"name":"Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology Boston Children's Hospital Boston MA"},{"name":"Harvard Medical School Boston MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"McKenna","family":"Kelly","sequence":"additional","affiliation":[{"name":"Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology Boston 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