{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T23:34:44Z","timestamp":1770680084141,"version":"3.49.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2020,10,10]],"date-time":"2020-10-10T00:00:00Z","timestamp":1602288000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2020,10,10]],"date-time":"2020-10-10T00:00:00Z","timestamp":1602288000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Neurol Belg"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1007\/s13760-020-01513-0","type":"journal-article","created":{"date-parts":[[2020,10,10]],"date-time":"2020-10-10T19:02:52Z","timestamp":1602356572000},"page":"1425-1432","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity"],"prefix":"10.1007","volume":"120","author":[{"given":"Fatma Kurt","family":"Colak","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naz","family":"Guleray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ebru","family":"Azapagasi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mutlu Uysal","family":"Yaz\u0131c\u0131","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erhan","family":"Aksoy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nesrin","family":"Ceylan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,10,10]]},"reference":[{"issue":"3","key":"1513_CR1","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1016\/S1474-4422(15)00250-1","volume":"15","author":"A McTague","year":"2016","unstructured":"McTague A, Howell KB, Cross JH, Kurian MA, Scheffer IE (2016) The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol 15(3):304\u2013316","journal-title":"Lancet Neurol"},{"issue":"2","key":"1513_CR2","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1016\/j.ejpn.2014.11.004","volume":"19","author":"R Straussberg","year":"2015","unstructured":"Straussberg R, Ganelin-Cohen E, Goldberg-Stern H, Tzur S, Behar DM, Smirin-Yosef P et al (2015) Lethal neonatal rigidity and multifocal seizure syndrome\u2014report of another family with a BRAT1 mutation. Eur J Paediatr Neurol 19(2):240\u2013242","journal-title":"Eur J Paediatr Neurol"},{"issue":"9","key":"1513_CR3","doi-asserted-by":"publisher","first-page":"2274","DOI":"10.1002\/ajmg.a.37798","volume":"170","author":"D Horn","year":"2016","unstructured":"Horn D, Weschke B, Knierim E, Fischer-Zirnsak B, Stenzel W, Schuelke M et al (2016) BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood. Am J Med Genet A 170(9):2274\u20132281","journal-title":"Am J Med Genet A"},{"issue":"12","key":"1513_CR4","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1038\/jhg.2014.91","volume":"59","author":"H Saitsu","year":"2014","unstructured":"Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, Nakashima M, Miyake N et al (2014) Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. J Hum Genet 59(12):687\u2013690","journal-title":"J Hum Genet"},{"issue":"154","key":"1513_CR5","doi-asserted-by":"publisher","first-page":"154ra135","DOI":"10.1126\/scitranslmed.3004041","volume":"4","author":"CJ Saunders","year":"2012","unstructured":"Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA et al (2012) Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med 4(154):154ra135","journal-title":"Sci Transl Med"},{"issue":"06","key":"1513_CR6","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1055\/s-0035-1564791","volume":"46","author":"LA van de Pol","year":"2015","unstructured":"van de Pol LA, Wolf NI, van Weissenbruch MM, Stam CJ, Weiss JM, Waisfisz Q et al (2015) Early-onset severe encephalopathy with epilepsy: the BRAT1 gene should be added to the list of causes. Neuropediatrics 46(06):392\u2013400","journal-title":"Neuropediatrics"},{"issue":"1","key":"1513_CR7","doi-asserted-by":"publisher","first-page":"e28936","DOI":"10.1371\/journal.pone.0028936","volume":"7","author":"EG Puffenberger","year":"2012","unstructured":"Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP et al (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS ONE 7(1):e28936","journal-title":"PLoS ONE"},{"issue":"6","key":"1513_CR8","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1016\/j.pediatrneurol.2015.09.002","volume":"53","author":"I Hanes","year":"2015","unstructured":"Hanes I, Kozenko M, Callen DJ (2015) Lethal neonatal rigidity and multifocal seizure syndrome\u2014a misnamed disorder? Pediatr Neurol 53(6):535\u2013540","journal-title":"Pediatr Neurol"},{"issue":"3","key":"1513_CR9","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1002\/ajmg.a.37434","volume":"170","author":"SA Mundy","year":"2016","unstructured":"Mundy SA, Krock BL, Mao R, Shen JJ (2016) BRAT1-related disease\u2014identification of a patient without early lethality. Am J Med Genet A 170(3):699\u2013702","journal-title":"Am J Med Genet A"},{"key":"1513_CR10","doi-asserted-by":"publisher","first-page":"1096","DOI":"10.1111\/dmcn.14428","volume":"62","author":"IE Scheffer","year":"2019","unstructured":"Scheffer IE, Boysen KE, Schneider AL, Myers CT, Mehaffey MG, Rochtus AM et al (2019) BRAT 1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. Dev Med Child Neurol 62:1096\u20131099","journal-title":"Dev Med Child Neurol"},{"issue":"3","key":"1513_CR11","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1038\/s41436-018-0089-2","volume":"21","author":"S Valence","year":"2019","unstructured":"Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E et al (2019) Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. Genet Med 21(3):553","journal-title":"Genet Med"},{"issue":"9","key":"1513_CR12","doi-asserted-by":"publisher","first-page":"2265","DOI":"10.1002\/ajmg.a.37783","volume":"170","author":"S Srivastava","year":"2016","unstructured":"Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT et al (2016) BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A 170(9):2265\u20132273","journal-title":"Am J Med Genet A"},{"key":"1513_CR13","first-page":"106","volume":"1","author":"O Skafi","year":"2018","unstructured":"Skafi O, Fawaz A, Merhi B, Jouni H, Mansour S (2018) Rigidity with multifocal seizure syndrome, lethal neonatal in a Lebanese neonate. A rare case report. J Pediatr Disord Neonatal Care 1:106","journal-title":"J Pediatr Disord Neonatal Care"},{"issue":"3","key":"1513_CR14","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1007\/s13353-018-0444-7","volume":"59","author":"A Anna","year":"2018","unstructured":"Anna A, Monika G (2018) Splicing mutations in human genetic disorders: examples, detection, and confirmation. J Appl Genet 59(3):253\u2013268","journal-title":"J Appl Genet"},{"issue":"3","key":"1513_CR15","doi-asserted-by":"publisher","first-page":"200","DOI":"10.4103\/jcn.JCN_32_17","volume":"6","author":"AU Hegde","year":"2017","unstructured":"Hegde AU, Sanghvi KP, Karnavat PK, Jalan AB (2017) BRCA1-associated ataxia telangiectasia mutated activation-1 mutation: an addition to the early infantile epileptic encephalopathy panel. J Clin Neonatol 6(3):200","journal-title":"J Clin Neonatol"},{"key":"1513_CR16","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.ebcr.2017.05.003","volume":"8","author":"Y Celik","year":"2017","unstructured":"Celik Y, Okuyaz C, Arslankoylu AE, Ceylaner S (2017) Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1. Epilepsy Behav Case Rep 8:31\u201332","journal-title":"Epilepsy Behav Case Rep"},{"issue":"11","key":"1513_CR17","doi-asserted-by":"publisher","first-page":"3033","DOI":"10.1002\/ajmg.a.37853","volume":"170","author":"NJ Smith","year":"2016","unstructured":"Smith NJ, Lipsett J, Dibbens LM, Heron SE (2016) BRAT1 associated neurodegeneration: intra-familial phenotypic differences in siblings. Am J Med Genet A 170(11):3033\u20133038","journal-title":"Am J Med Genet A"},{"issue":"4","key":"1513_CR18","doi-asserted-by":"publisher","first-page":"362","DOI":"10.5114\/fn.2018.80870","volume":"56","author":"K Szyma\u0144ska","year":"2018","unstructured":"Szyma\u0144ska K, Laure-Kamionowska M, Szcza\u0142uba K, Koppolu A, Furmanek M, Ku\u015bmierska K et al (2018) Clinico-pathological correlation in case of BRAT1 mutation. Folia Neuropathol 56(4):362\u2013371","journal-title":"Folia Neuropathol"},{"issue":"12","key":"1513_CR19","doi-asserted-by":"publisher","first-page":"1071","DOI":"10.1093\/jnen\/nly093","volume":"77","author":"RH Van Ommeren","year":"2018","unstructured":"Van Ommeren RH, Gao AF, Blaser SI, Chitayat DA, Hazrati L-N (2018) BRAT1 mutation: the first reported case of Chinese origin and review of the literature. J Neuropathol Exp Neurol 77(12):1071\u20131078","journal-title":"J Neuropathol Exp Neurol"},{"key":"1513_CR20","doi-asserted-by":"publisher","first-page":"e1","DOI":"10.1016\/j.pediatrneurol.2015.12.001","volume":"57","author":"E Grillo","year":"2016","unstructured":"Grillo E (2016) BRAT1 and TSEN54: important roles in basic cellular processes and similar phenotypes. Pediatr Neurol 57:e1","journal-title":"Pediatr Neurol"},{"issue":"1","key":"1513_CR21","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1186\/s13023-018-0826-2","volume":"13","author":"T van Dijk","year":"2018","unstructured":"van Dijk T, Baas F, Barth PG (2018) What\u2019s new in pontocerebellar hypoplasia? An update on genes and subtypes. Orphanet J Rare Dis 13(1):92","journal-title":"Orphanet J Rare Dis"}],"container-title":["Acta Neurologica Belgica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-020-01513-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13760-020-01513-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-020-01513-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T06:26:52Z","timestamp":1744180012000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13760-020-01513-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,10]]},"references-count":21,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["1513"],"URL":"https:\/\/doi.org\/10.1007\/s13760-020-01513-0","relation":{},"ISSN":["0300-9009","2240-2993"],"issn-type":[{"value":"0300-9009","type":"print"},{"value":"2240-2993","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,10]]},"assertion":[{"value":"18 July 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 September 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 October 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"All authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}