{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:09:53Z","timestamp":1791317393230,"version":"4.3.1"},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,10,22]],"date-time":"2015-10-22T00:00:00Z","timestamp":1445472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>We present a patient with neonatal onset of hypertonia and seizures identified through whole exome sequencing to have compound heterozygous variants, c.294dupA (p.Leu99fs) and c.1925C&gt;A (p.Ala642Glu), in the <jats:italic>BRCA1\u2010associated protein required for ATM activation\u20101<\/jats:italic> (<jats:italic>BRAT1)<\/jats:italic> gene. Variants in <jats:italic>BRAT1<\/jats:italic> have been identified to cause lethal neonatal rigidity and multifocal seizure syndrome (OMIM# 614498), which consistently manifests a severe neurological phenotype that includes neonatal presentation of rigidity and hypertonia, microcephaly and arrested head growth, intractable seizures, absence of developmental progress, apneic episodes, and death usually by 6 months of age. Our patient initially had a similarly severe neurological picture but remains alive at 6 years of age, expanding the phenotype to include longer term survival and providing further insights into genotype\u2010phenotype correlations and the natural history of this disease. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37434","type":"journal-article","created":{"date-parts":[[2015,10,23]],"date-time":"2015-10-23T04:16:51Z","timestamp":1445573811000},"page":"699-702","source":"Crossref","is-referenced-by-count":29,"title":["<i>BRAT1<\/i>\u2010related disease\u2014identification of a patient without early lethality"],"prefix":"10.1002","volume":"170","author":[{"given":"Sheraden A.","family":"Mundy","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Metabolism Valley Children's Hospital Madera California"},{"name":"Natera Inc. San Carlos California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan L.","family":"Krock","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Utah Salt Lake City Utah"},{"name":"ARUP Laboratories Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rong","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Utah Salt Lake City Utah"},{"name":"ARUP Laboratories Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph J.","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Metabolism Valley Children's Hospital Madera California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,10,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M510332200"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/1947601911404222"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0028936"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.91"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3004041"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.3892\/etm.2011.232"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2407-14-548"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2014.11.004"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.004"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37434","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37434","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T02:00:48Z","timestamp":1696644048000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37434"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,22]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["10.1002\/ajmg.a.37434"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37434","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,22]]}}}