{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T01:18:57Z","timestamp":1780708737805,"version":"3.54.1"},"reference-count":18,"publisher":"Cambridge University Press (CUP)","issue":"4","license":[{"start":{"date-parts":[[2014,12,2]],"date-time":"2014-12-02T00:00:00Z","timestamp":1417478400000},"content-version":"unspecified","delay-in-days":884,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:sec id=\"S0317167100014050_abs1\"><jats:title>Background:<\/jats:title><jats:p>Pyridoxine dependent epilepsy (PDE) is characterized by neonatal epileptic encepahalopathy responsive to pharmacological doses of vitamin B<jats:sub>6<\/jats:sub>. Recently an autosomal recessive deficiency in Antiquitin (<jats:italic>ALDH7A1<\/jats:italic>), a gene involved in the catabolism of lysine has been identified as the underlying cause.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100014050_abs2\"><jats:title>Case report:<\/jats:title><jats:p>In 21 and 23 year-old sisters, who had presented with neonatal \/ early infantile onset seizures, PDE was confirmed by elevated urinary alpha aminoadipic- 6- semialdehyde (\u03b1-AASA) excretion and compound heterozygosity for two known<jats:italic>ALDH7A1<\/jats:italic>missense mutations. Although epilepsy was well controlled upon treatment with pyridoxine, thiamine, phenytoin and carbamazepine since early infancy, both had developmental delay with prominent speech delay as children. As adults, despite the same genetic background and early treatment with pyridoxine, their degree of intellectual disability (ID) differed widely. While the older sister's cognitive functions were in the moderate ID range and she was not able to live unattended, the younger sister had only mild ID and was able to live independently.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100014050_abs3\"><jats:title>Conclusion:<\/jats:title><jats:p>Although seizures are a defining feature of PDE, other disease manifestations can vary widely even within the same family. Adult neurologists should be aware that the diagnosis of PDE can be delayed and PDE should be considered in the differential diagnosis of adults with seizure disorders dating from childhood.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s0317167100014050","type":"journal-article","created":{"date-parts":[[2014,12,12]],"date-time":"2014-12-12T15:03:41Z","timestamp":1418396621000},"page":"516-519","source":"Crossref","is-referenced-by-count":12,"title":["Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy"],"prefix":"10.1017","volume":"39","author":[{"given":"Majid","family":"Alfadhel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Sirrs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula J.","family":"Waters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e1s","family":"Szeitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduard","family":"Struys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Coulter-Mackie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Stockler-Ipsiroglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2014,12,2]]},"reference":[{"key":"S0317167100014050_ref014","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-009-1020-2"},{"key":"S0317167100014050_ref007","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0823-x"},{"key":"S0317167100014050_ref002","doi-asserted-by":"publisher","DOI":"10.1136\/adc.58.6.415"},{"key":"S0317167100014050_ref011","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1202833"},{"key":"S0317167100014050_ref012","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-865727"},{"key":"S0317167100014050_ref005","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.05.014"},{"key":"S0317167100014050_ref016","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9187-2"},{"key":"S0317167100014050_ref017","doi-asserted-by":"publisher","DOI":"10.3109\/10409238909082552"},{"key":"S0317167100014050_ref001","doi-asserted-by":"publisher","DOI":"10.1038\/nm1366"},{"key":"S0317167100014050_ref008","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162201000779"},{"key":"S0317167100014050_ref009","first-page":"1","article-title":"Neonatal vitamin-responsive epileptic encephalopathies","volume":"33","author":"Gospe","year":"2010","journal-title":"Chang Gung Med J"},{"key":"S0317167100014050_ref018","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21568"},{"key":"S0317167100014050_ref003","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170203"},{"key":"S0317167100014050_ref004","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1542\/peds.90.2.221","article-title":"Postneonatal vitamin B6-dependent epilepsy","volume":"90","author":"Coker","year":"1992","journal-title":"Pediatrics"},{"key":"S0317167100014050_ref015","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq143"},{"key":"S0317167100014050_ref013","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2007.00300.x"},{"key":"S0317167100014050_ref006","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01816.x"},{"key":"S0317167100014050_ref010","doi-asserted-by":"publisher","DOI":"10.1093\/tropej\/48.5.303"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167100014050","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,24]],"date-time":"2022-04-24T09:54:51Z","timestamp":1650794091000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167100014050\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["S0317167100014050"],"URL":"https:\/\/doi.org\/10.1017\/s0317167100014050","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7]]}}}