{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T12:45:22Z","timestamp":1790167522748,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T00:00:00Z","timestamp":1777852800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T00:00:00Z","timestamp":1777852800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100014607","name":"Royal Children's Hospital Foundation","doi-asserted-by":"publisher","award":["2020\u20101259"],"award-info":[{"award-number":["2020\u20101259"]}],"id":[{"id":"10.13039\/100014607","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To determine whether prompt genetic diagnosis in children with KCNQ2 neonatal epilepsy enabling targeted therapy is associated with improved outcomes, and identify early predictors of developmental outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Thirty\u2010seven children with KCNQ2 neonatal epilepsy were recruited from five pediatric centers. We reviewed demographic, clinical, EEG, and genetic data. We determined differences in outcomes between individuals with prompt (greater than 30\u2009days from seizure onset) and later genetic diagnosis, and we identified neonatal factors associated with developmental outcome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Baseline characteristics were similar between children with prompt (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20096, median age at genetic diagnosis 15\u2009days) and later (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200931, median age 309\u2009days,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u2009.05) diagnosis. All with prompt diagnosis received sodium channel blocking (SCB) anti\u2010seizure medication (ASM) in the neonatal period compared with 15\/31 (48%) in the later diagnosis group. Children with prompt diagnosis had higher rates of seizure freedom at age 12\u2009months than those with later diagnosis (6\/6 [100%] vs. 17\/31 [54%];\n                      <jats:italic>p<\/jats:italic>\n                      .049], and lower number of emergency department representations (median 0 vs. 2), and hospital readmissions (median 0 vs. 1). Factors in the neonatal period associated with abnormal developmental outcome included neurological abnormalities (e.g., abnormal tone) and markedly abnormal neonatal EEG background (11\/11 [100%] with markedly abnormal EEG vs. 11\/24 [46%] with normal to moderately abnormal EEG).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>Prompt genetic diagnosis was associated with targeted therapy, resulting in improved seizure control and reduced hospital representation. Clinical features present in the neonate assist in predicting outcome severity, which is critically important in counselling families receiving a KCNQ2 diagnosis soon after seizure onset.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Plain Language Summary<\/jats:title>\n                    <jats:p>\n                      In\n                      <jats:italic>KCNQ2<\/jats:italic>\n                      neonatal epilepsy, sodium channel blocking antiseizure medicines are recommended, but the benefits of starting treatment early have been uncertain. Our findings show that prompt genetic diagnosis enabled early targeted treatment, with potential to improve outcomes. Specifically, prompt genetic diagnosis was associated with improved seizure control and reduced hospital visits compared with delayed diagnosis. However, a prospective, long\u2010term study is needed to determine whether early treatment also improves developmental outcomes. Predicting outcome severity in newborns remains challenging, although abnormal neurological examination and markedly abnormal EEG in the newborn period were linked to abnormal developmental outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/epi4.70266","type":"journal-article","created":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T15:50:07Z","timestamp":1777909807000},"page":"949-961","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>KCNQ2<\/i>\n                    neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-5338-800X","authenticated-orcid":false,"given":"Trupti","family":"Jadhav","sequence":"first","affiliation":[{"name":"Department of Neurology The Royal Children\u2019s Hospital  Melbourne Victoria Australia"},{"name":"Murdoch Children\u2019s Research Institute  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4749-4883","authenticated-orcid":false,"given":"Sophie E.","family":"Bouffler","sequence":"additional","affiliation":[{"name":"Australian Genomics  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0063-0040","authenticated-orcid":false,"given":"Emily","family":"Innes","sequence":"additional","affiliation":[{"name":"Kids Neuroscience Centre Children\u2019s Hospital at Westmead  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0811-4785","authenticated-orcid":false,"given":"Michael","family":"Fahey","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Monash Health  Melbourne Victoria Australia"},{"name":"Department of Pediatrics Monash University  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2475-6545","authenticated-orcid":false,"given":"Matthew","family":"Hunter","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Monash University  Melbourne Victoria Australia"},{"name":"Monash Genetics Monash Health  Melbourne Victoria Australia"},{"name":"Genetic Counselling Liaison Service Queensland Children\u2019s Hospital  Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0109-8877","authenticated-orcid":false,"given":"Kavitha","family":"Kothur","sequence":"additional","affiliation":[{"name":"Kids Neuroscience Centre Children\u2019s Hospital at Westmead, University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7168-0723","authenticated-orcid":false,"given":"Sebastian","family":"Lunke","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Murdoch Children\u2019s Research Institute  Melbourne Victoria Australia"},{"name":"Department of Pediatrics The University of Melbourne  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6413-8231","authenticated-orcid":false,"given":"Matthew","family":"Lynch","sequence":"additional","affiliation":[{"name":"Neurosciences Unit Queensland Children\u2019s Hospital  Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9894-4610","authenticated-orcid":false,"given":"Emma","family":"Macdonald\u2010Laurs","sequence":"additional","affiliation":[{"name":"Department of Neurology The Royal Children\u2019s Hospital  Melbourne Victoria Australia"},{"name":"Murdoch Children\u2019s Research Institute  Melbourne Victoria Australia"},{"name":"Department of Pediatrics The University of Melbourne  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1844-215X","authenticated-orcid":false,"given":"Elizabeth Emma","family":"Palmer","sequence":"additional","affiliation":[{"name":"Centre for Clinical Genetics Sydney Children\u2019s Hospitals Network  Sydney New South Wales Australia"},{"name":"UNSW Medicine and Health The University of New South Wales  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6374-5224","authenticated-orcid":false,"given":"Chirag","family":"Patel","sequence":"additional","affiliation":[{"name":"Genetic Health Queensland Royal Brisbane and Women\u2019s Hospital  Brisbane Queensland 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Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2750-1430","authenticated-orcid":false,"given":"Rani","family":"Sachdev","sequence":"additional","affiliation":[{"name":"Centre for Clinical Genetics Sydney Children\u2019s Hospitals Network  Sydney New South Wales Australia"},{"name":"UNSW Medicine and Health The University of New South Wales  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1393-8148","authenticated-orcid":false,"given":"Sarah A.","family":"Sandaradura","sequence":"additional","affiliation":[{"name":"Kids Neuroscience Centre Children\u2019s Hospital at Westmead, University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2311-2174","authenticated-orcid":false,"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Department of Neurology The Royal Children\u2019s Hospital  Melbourne Victoria Australia"},{"name":"Murdoch Children\u2019s Research Institute  Melbourne Victoria Australia"},{"name":"Department of Pediatrics The University of Melbourne  Melbourne Victoria Australia"},{"name":"Department of Medicine University of Melbourne, Austin Health  Melbourne Victoria Australia"},{"name":"Florey Institute of Neuroscience and Mental Health  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8640-1371","authenticated-orcid":false,"given":"Zornitza","family":"Stark","sequence":"additional","affiliation":[{"name":"Australian Genomics  Melbourne Victoria Australia"},{"name":"Victorian Clinical Genetics Services Murdoch Children\u2019s Research Institute  Melbourne Victoria Australia"},{"name":"Department of Pediatrics The University of Melbourne  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5469-8411","authenticated-orcid":false,"given":"Katherine B.","family":"Howell","sequence":"additional","affiliation":[{"name":"Department of Neurology The Royal Children\u2019s Hospital  Melbourne Victoria Australia"},{"name":"Murdoch Children\u2019s Research Institute  Melbourne Victoria Australia"},{"name":"Department of Pediatrics The University of Melbourne  Melbourne Victoria 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