{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T23:36:50Z","timestamp":1792885010673,"version":"4.5.0"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,12,23]],"date-time":"2019-12-23T00:00:00Z","timestamp":1577059200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Epilepsy of infancy with migrating focal seizures (<jats:styled-content style=\"fixed-case\">EIMFS<\/jats:styled-content>), one of the most severe developmental and epileptic encephalopathy syndromes, is characterized by seizures that migrate from one hemisphere to the other. <jats:styled-content style=\"fixed-case\">EIMFS<\/jats:styled-content> is genetically heterogeneous with 33 genes. We report five patients with <jats:styled-content style=\"fixed-case\">EIMFS<\/jats:styled-content> caused by recessive <jats:italic><jats:styled-content style=\"fixed-case\">BRAT<\/jats:styled-content>1<\/jats:italic> variants, identified via next generation sequencing. Recessive pathogenic variants in <jats:italic><jats:styled-content style=\"fixed-case\">BRAT<\/jats:styled-content>1<\/jats:italic> cause the rigidity and multifocal seizure syndrome, lethal neonatal with hypertonia, microcephaly, and intractable multifocal seizures. The epileptology of <jats:italic><jats:styled-content style=\"fixed-case\">BRAT<\/jats:styled-content>1<\/jats:italic> encephalopathy has not been well described. All five patients were profoundly impaired with seizure onset in the first week of life and focal seizure migration between hemispheres. We show that <jats:italic><jats:styled-content style=\"fixed-case\">BRAT<\/jats:styled-content>1<\/jats:italic> is an important recessive cause of <jats:styled-content style=\"fixed-case\">EIMFS<\/jats:styled-content> with onset in the first week of life, profound impairment, and early death. Early recognition of this genetic aetiology will inform management and reproductive counselling.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.14428","type":"journal-article","created":{"date-parts":[[2019,12,23]],"date-time":"2019-12-23T12:46:32Z","timestamp":1577105192000},"page":"1096-1099","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["<i><scp>BRAT<\/scp>1<\/i> encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures"],"prefix":"10.1111","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2311-2174","authenticated-orcid":false,"given":"Ingrid E","family":"Scheffer","sequence":"first","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine Austin Health University of Melbourne Heidelberg Victoria Australia"},{"name":"Florey Institute of Neuroscience and Mental Health Heidelberg Victoria Australia"},{"name":"Murdoch Children's Research Institute Parkville Victoria Australia"},{"name":"Department of Paediatrics Royal Children's Hospital Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja E","family":"Boysen","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine Austin Health University of Melbourne Heidelberg Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy L","family":"Schneider","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine Austin Health University of Melbourne Heidelberg Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Candace T","family":"Myers","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Department of Pediatrics University of Washington Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele G","family":"Mehaffey","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Department of Pediatrics University of Washington Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M","family":"Rochtus","sequence":"additional","affiliation":[{"name":"Epilepsy Genetics Program Department of Neurology Boston Children's Hospital Boston MA USA"},{"name":"Department of Neurology Harvard Medical School Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuet\u2010Ping","family":"Yuen","sequence":"additional","affiliation":[{"name":"Hong Kong Children's Hospital Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel M","family":"Ronen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics McMaster University Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wai Km","family":"Chak","sequence":"additional","affiliation":[{"name":"Tuen Mun Hospital New Territories, West Cluster Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6219-9479","authenticated-orcid":false,"given":"Deepak","family":"Gill","sequence":"additional","affiliation":[{"name":"T. 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Nelson Department of Neurology and Neurosurgery The Children's Hospital at Westmead Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annapurna","family":"Poduri","sequence":"additional","affiliation":[{"name":"Epilepsy Genetics Program Department of Neurology Boston Children's Hospital Boston MA USA"},{"name":"Department of Neurology Harvard Medical School Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather C","family":"Mefford","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Department of Pediatrics University of Washington Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1995.tb00961.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13709"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13141"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22318"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23998"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms9038"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25619"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(15)00250-1"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0028936"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37853"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37783"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nly093"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2018.02.003"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37798"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.91"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fdmcn.14428","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.14428","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/dmcn.14428","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.14428","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T18:14:54Z","timestamp":1693678494000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dmcn.14428"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,23]]},"references-count":15,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1111\/dmcn.14428"],"URL":"https:\/\/doi.org\/10.1111\/dmcn.14428","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,23]]},"assertion":[{"value":"2019-11-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}