{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:03:45Z","timestamp":1791115425759,"version":"4.1.0"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain"],"published-print":{"date-parts":[[2014,5,1]]},"DOI":"10.1093\/brain\/awu051","type":"journal-article","created":{"date-parts":[[2014,3,19]],"date-time":"2014-03-19T02:57:09Z","timestamp":1395197829000},"page":"1350-1360","source":"Crossref","is-referenced-by-count":165,"title":["Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome"],"prefix":"10.1093","volume":"137","author":[{"given":"P. B.","family":"Mills","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. S. M.","family":"Camuzeaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. J.","family":"Footitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. A.","family":"Mills","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Gissen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Fisher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. B.","family":"Das","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. M.","family":"Varadkar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Zuberi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"McWilliam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Stodberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Plecko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. R.","family":"Baumgartner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Maier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Calvert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Riney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. I.","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. H.","family":"Livingston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Bala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. F.","family":"Morel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Feillet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Raimondi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Del Giudice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. K.","family":"Chong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Pitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. T.","family":"Clayton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,3,18]]},"reference":[{"issue":"1","key":"1_42886689","doi-asserted-by":"publisher","first-page":"e191","DOI":"10.1542\/peds.2011-3751","volume":"130","year":"2012","journal-title":"Pediatrics","ISSN":"https:\/\/id.crossref.org\/issn\/0031-4005","issn-type":"print"},{"issue":"5","key":"2_10216492","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1093\/ajcn\/57.5.666","volume":"57","author":"Anderson","year":"1993","journal-title":"The American Journal of Clinical Nutrition","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9165","issn-type":"print"},{"key":"3_47584677","doi-asserted-by":"crossref","first-page":"F151","DOI":"10.1136\/adc.2007.122911","volume":"93","year":"2008","journal-title":"Archives of Disease in Childhood","ISSN":"https:\/\/id.crossref.org\/issn\/0003-9888","issn-type":"print"},{"issue":"2","key":"4_14259570","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1016\/0014-4894(87)90148-2","volume":"64","author":"Bitonti","year":"1987","journal-title":"Experimental parasitology","ISSN":"https:\/\/id.crossref.org\/issn\/0014-4894","issn-type":"print"},{"issue":"1","key":"5_3927110","first-page":"9","volume":"28","author":"Chern","year":"1976","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"24","key":"6_43544879","doi-asserted-by":"publisher","first-page":"5359","DOI":"10.1093\/hmg\/dds373","volume":"21","year":"2012","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"6","key":"7_22299701","first-page":"801","volume":"91","author":"Flanagan","year":"2006","journal-title":"Haematologica","ISSN":"https:\/\/id.crossref.org\/issn\/0390-6078","issn-type":"print"},{"key":"8_47584678","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s10545-012-9493-y","volume":"36","year":"2013","journal-title":"Journal of inherited metabolic disease","ISSN":"https:\/\/id.crossref.org\/issn\/0141-8955","issn-type":"print"},{"issue":"2","key":"9_39211489","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1007\/s10545-011-9279-7","volume":"34","author":"Footitt","year":"2011","journal-title":"Journal of inherited metabolic disease","ISSN":"https:\/\/id.crossref.org\/issn\/0141-8955","issn-type":"print"},{"key":"11_47584679","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.pediatrneurol.2012.11.006","volume":"48","year":"2013","journal-title":"Pediatric neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0887-8994","issn-type":"print"},{"issue":"6","key":"12_16645493","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/S1090-3798(98)80007-X","volume":"2","author":"Hammen","year":"1998","journal-title":"European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society","ISSN":"https:\/\/id.crossref.org\/issn\/1090-3798","issn-type":"print"},{"issue":"23","key":"13_35565021","doi-asserted-by":"publisher","first-page":"4677","DOI":"10.1093\/hmg\/ddp428","volume":"18","year":"2009","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"1","key":"14_23078424","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1007\/s10545-006-0508-4","volume":"30","author":"Mayell","year":"2007","journal-title":"Journal of inherited metabolic disease","ISSN":"https:\/\/id.crossref.org\/issn\/0141-8955","issn-type":"print"},{"issue":"4","key":"15_7896959","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1111\/j.1651-2227.1979.tb05056.x","volume":"68","author":"Hovi","year":"1979","journal-title":"Acta Paediatrica Scandinavica","ISSN":"https:\/\/id.crossref.org\/issn\/0001-656X","issn-type":"print"},{"issue":"5","key":"16_34742624","first-page":"308","volume":"19","author":"Iqbal","year":"2009","journal-title":"Journal of the College of Physicians and Surgeons--Pakistan : JCPSP","ISSN":"https:\/\/id.crossref.org\/issn\/1022-386X","issn-type":"print"},{"issue":"4","key":"17_15964392","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1016\/0197-0186(94)00145-K","volume":"26","author":"Ishioka","year":"1995","journal-title":"Neurochemistry international","ISSN":"https:\/\/id.crossref.org\/issn\/0197-0186","issn-type":"print"},{"key":"18_46813121","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1212\/01.WNL.0000151970.29205.70","volume":"64","year":"2005","journal-title":"OGPL Neurology"},{"issue":"12","key":"19_18213556","doi-asserted-by":"crossref","first-page":"2452","DOI":"10.1111\/j.1432-1033.2004.04175.x","volume":"271","author":"Kang","year":"2004","journal-title":"FEBS Journal","ISSN":"https:\/\/id.crossref.org\/issn\/0014-2956","issn-type":"print"},{"issue":"4","key":"20_31527756","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1016\/j.ymgme.2008.04.008","volume":"94","author":"Khayat","year":"2008","journal-title":"Molecular genetics and metabolism","ISSN":"https:\/\/id.crossref.org\/issn\/1096-7192","issn-type":"print"},{"issue":"6","key":"21_18546648","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1002\/jat.1007","volume":"24","author":"Levine","year":"2004","journal-title":"Journal of applied toxicology : JAT","ISSN":"https:\/\/id.crossref.org\/issn\/0260-437X","issn-type":"print"},{"issue":"8062","key":"22_4528766","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/S0140-6736(78)90133-2","volume":"1","author":"Martin","year":"1978","journal-title":"Lancet","ISSN":"https:\/\/id.crossref.org\/issn\/0140-6736","issn-type":"print"},{"issue":"7","key":"24_37459747","doi-asserted-by":"publisher","first-page":"2148","DOI":"10.1093\/brain\/awq143","volume":"133","year":"2010","journal-title":"Brain","ISSN":"https:\/\/id.crossref.org\/issn\/0006-8950","issn-type":"print"},{"issue":"8","key":"25_18797085","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1093\/hmg\/ddi120","volume":"14","year":"2005","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"3","key":"26_23688816","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1016\/j.pt.2007.01.009","volume":"23","author":"Muller","year":"2007","journal-title":"Trends in parasitology","ISSN":"https:\/\/id.crossref.org\/issn\/1471-4922","issn-type":"print"},{"issue":"7","key":"27_17691062","doi-asserted-by":"publisher","first-page":"1455","DOI":"10.1110\/ps.0356203","volume":"12","author":"Musayev","year":"2003","journal-title":"Protein Science","ISSN":"https:\/\/id.crossref.org\/issn\/0961-8368","issn-type":"print"},{"issue":"45","key":"28_35595456","doi-asserted-by":"publisher","first-page":"30949","DOI":"10.1074\/jbc.M109.038372","volume":"284","year":"2009","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"key":"29_30490176","doi-asserted-by":"crossref","first-page":"7741","DOI":"10.1021\/bi972983r","volume":"37","year":"1998","ISSN":"https:\/\/id.crossref.org\/issn\/1520-4995","issn-type":"print"},{"issue":"2","key":"30_31141118","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/j.ymgme.2008.01.004","volume":"94","author":"Ormazabal","year":"2008","journal-title":"Molecular genetics and metabolism","ISSN":"https:\/\/id.crossref.org\/issn\/1096-7192","issn-type":"print"},{"key":"31_47584680","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/8904_2012_194","volume":"9","year":"2012","journal-title":"JIMD"},{"issue":"3","key":"32_40811294","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1590\/S1415-47572011000300008","volume":"34","author":"Polizzi","year":"2011","ISSN":"https:\/\/id.crossref.org\/issn\/1415-4757","issn-type":"print"},{"issue":"17","key":"33_17216238","doi-asserted-by":"publisher","first-page":"3894","DOI":"10.1093\/nar\/gkf493","volume":"30","author":"Ramensky","year":"2002","journal-title":"Nucleic Acids Research","ISSN":"https:\/\/id.crossref.org\/issn\/0305-1048","issn-type":"print"},{"issue":"2","key":"34_30305490","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1016\/j.ymgme.2007.10.003","volume":"93","author":"Ruiz","year":"2008","journal-title":"Molecular genetics and metabolism","ISSN":"https:\/\/id.crossref.org\/issn\/1096-7192","issn-type":"print"},{"issue":"Pt 5","key":"35_18869360","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1107\/S0907444905005512","volume":"61","author":"Safo","year":"2005","journal-title":"Acta Crystallographica, Section D: Biological Crystallography","ISSN":"https:\/\/id.crossref.org\/issn\/1399-0047","issn-type":"print"},{"key":"36_47584681","first-page":"R966","volume":"262","year":"1992","journal-title":"American Journal of Physiology - Gastrointestinal and Liver Physiology","ISSN":"https:\/\/id.crossref.org\/issn\/0193-1857","issn-type":"print"},{"issue":"W1","key":"37_42816405","doi-asserted-by":"publisher","first-page":"W452","DOI":"10.1093\/nar\/gks539","volume":"40","year":"2012","journal-title":"Nucleic Acids Research","ISSN":"https:\/\/id.crossref.org\/issn\/0305-1048","issn-type":"print"},{"issue":"2","key":"38_13530759","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1042\/bj2270537","volume":"227","author":"Takeuchi","year":"1985","journal-title":"Biochemical Journal","ISSN":"https:\/\/id.crossref.org\/issn\/0264-6021","issn-type":"print"},{"issue":"4","key":"39_34415954","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1016\/j.ajhg.2009.02.011","volume":"84","author":"Tanaka","year":"2009","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"3","key":"40_39159245","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1016\/j.yebeh.2010.12.046","volume":"20","author":"Veerapandiyan","year":"2011","journal-title":"Epilepsy & behavior : E&B","ISSN":"https:\/\/id.crossref.org\/issn\/1525-5050","issn-type":"print"},{"issue":"5","key":"41_18824385","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1136\/adc.2003.045963","volume":"90","author":"Wang","year":"2005","journal-title":"Archives of Disease in Childhood","ISSN":"https:\/\/id.crossref.org\/issn\/0003-9888","issn-type":"print"},{"issue":"2","key":"42_13993150","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1007\/BF01801674","volume":"8","author":"Yoshida","year":"1985","journal-title":"Journal of inherited metabolic disease","ISSN":"https:\/\/id.crossref.org\/issn\/0141-8955","issn-type":"print"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/137\/5\/1350\/13797502\/awu051.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,25]],"date-time":"2024-05-25T03:58:12Z","timestamp":1716609492000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/awu051"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,18]]},"references-count":40,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2014,4,25]]},"published-print":{"date-parts":[[2014,5,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awu051","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,18]]}}}