{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T07:19:17Z","timestamp":1784618357006,"version":"3.55.0"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>We report 4 pyridoxine\u2010dependent epilepsy patients in which good outcome was determined in three. The 4 patients were male and aged from 7 to 24 years old (from three unrelated Caucasian families). A clinical diagnosis of neonatal pyridoxine\u2010dependent epilepsy was confirmed by biochemical and genetic studies. Clinical evaluation was performed and medical records were reviewed for therapy implementation and management, neurodevelopment outcome, magnetic resonance imaging, and electroencephalography. All were taking pyridoxine treatment and were seizure\u2010free. Elevated urinary alpha\u2010aminoadipic semialdehyde excretion was found in all patients. Antiquitin gene analysis identified a large homozygous deletion in one patient and two heterozygous mutations in the others. Treatment with pyridoxine should be attempted for all cases of infantile and childhood refractory epilepsy, as has been the case over the last 20 years. Currently, urinary alpha\u2010aminoadipic semialdehyde is a reliable biomarker of pyridoxine\u2010dependent epilepsy, even under pyridoxine treatment. Detection of mutations in the antiquitin gene, encoding alpha\u2010aminoadipic semialdehyde dehydrogenase, establishes the diagnosis and allows for adequate genetic counselling.<\/jats:p>","DOI":"10.1684\/epd.2013.0610","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T09:24:44Z","timestamp":1564737884000},"page":"400-406","source":"Crossref","is-referenced-by-count":15,"title":["Pyridoxine\u2010dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome"],"prefix":"10.1002","volume":"15","author":[{"given":"Renata","family":"Oliveira","sequence":"first","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Pereira","sequence":"additional","affiliation":[{"name":"Centro de Desenvolvimento Lu\u00eds Borges Hospital Pedi\u00e1trico \u2010 Centro Hospitalar Universit\u00e1rio de Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fidjy","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Alfaite","sequence":"additional","affiliation":[{"name":"Centro de Desenvolvimento Lu\u00eds Borges Hospital Pedi\u00e1trico \u2010 Centro Hospitalar Universit\u00e1rio de Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Garcia","sequence":"additional","affiliation":[{"name":"Centro de Desenvolvimento Lu\u00eds Borges Hospital Pedi\u00e1trico \u2010 Centro Hospitalar Universit\u00e1rio de Coimbra Portugal"},{"name":"Metabolic Unit Department of Clinical Chemistry VU University Medical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concei\u00e7\u00e3o","family":"Robalo","sequence":"additional","affiliation":[{"name":"Centro de Desenvolvimento Lu\u00eds Borges Hospital Pedi\u00e1trico \u2010 Centro Hospitalar Universit\u00e1rio de Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Fineza","sequence":"additional","affiliation":[{"name":"Centro de Desenvolvimento Lu\u00eds Borges Hospital Pedi\u00e1trico \u2010 Centro Hospitalar Universit\u00e1rio de Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olavo","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"Centro de Desenvolvimento Lu\u00eds Borges Hospital Pedi\u00e1trico \u2010 Centro Hospitalar Universit\u00e1rio de Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduard","family":"Struys","sequence":"additional","affiliation":[{"name":"Metabolic Unit Department of Clinical Chemistry VU University Medical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gajja","family":"Salomons","sequence":"additional","affiliation":[{"name":"Metabolic Unit Department of Clinical Chemistry VU University Medical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelis","family":"Jakobs","sequence":"additional","affiliation":[{"name":"Metabolic Unit Department of Clinical Chemistry VU University Medical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu\u00edsa","family":"Diogo","sequence":"additional","affiliation":[{"name":"Centro de Desenvolvimento Lu\u00eds Borges Hospital Pedi\u00e1trico \u2010 Centro Hospitalar Universit\u00e1rio de Coimbra Portugal"},{"name":"Metabolic Unit Department of Clinical Chemistry VU University Medical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0823-x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2001.tb00231.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2005.075069"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04347.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04354.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.13.2.140"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm1366"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq143"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.81.2.F125"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2009.0280"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9187-2"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03660.x"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.05.014"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2013.0610","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T12:19:00Z","timestamp":1710764340000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2013.0610"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1684\/epd.2013.0610"],"URL":"https:\/\/doi.org\/10.1684\/epd.2013.0610","archive":["Portico"],"relation":{"is-cited-by":[{"id-type":"doi","id":"10.1186\/s13052-018-0491-z","asserted-by":"object"},{"id-type":"doi","id":"10.1007\/s11011-016-9869-z","asserted-by":"object"}]},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}