{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:34:50Z","timestamp":1777804490645,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","issue":"14","license":[{"start":{"date-parts":[[2019,8,9]],"date-time":"2019-08-09T00:00:00Z","timestamp":1565308800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:p>In recent years, the clinical spectrum of pyridoxine phosphate oxidase (PNPO) deficiency has broadened. There are a growing number of patients with a transient or lasting response to pyridoxine in addition to cases that respond more traditionally to pyridoxal-phosphate. However, among pyridoxine-responsive patients with PNPO gene mutation, there are only a few reports on electroencephalogram (EEG) ictal\/interictal patterns, and data regarding the outcomes are inconsistent. We describe a case of neonatal onset epilepsy with missense mutation c(674G&gt;A) p(R225 H) in PNPO gene and pyridoxine responsiveness. Comparing this patient with 24 cases of previously described pyridoxine-responsive pyridoxine phosphate oxidase deficiency epilepsy, we found that patients carrying the missense mutation c(674G&gt;A) p(R225 H) of the PNPO gene might have a more severe epileptic phenotype, possibly because of their lower residual PNPO activity. Indeed, pyridoxine-responsive pyridoxine phosphate oxidase deficiency epilepsy remains a challenge, with neurodevelopmental disabilities occurring in about half of the cases.<\/jats:p>","DOI":"10.1177\/0883073819863992","type":"journal-article","created":{"date-parts":[[2019,8,9]],"date-time":"2019-08-09T08:43:20Z","timestamp":1565340200000},"page":"937-943","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation"],"prefix":"10.1177","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2149-0083","authenticated-orcid":false,"given":"Licia","family":"Lugli","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University Hospital, Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Carolina","family":"Bariola","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital, Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Ori","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital, Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Lucaccioni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital, Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Berardi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital, Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabrizio","family":"Ferrari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital, Modena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2019,8,9]]},"reference":[{"key":"bibr1-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03660.x"},{"key":"bibr2-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(01)00357-5"},{"key":"bibr3-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi120"},{"key":"bibr4-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2012_194"},{"key":"bibr5-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu051"},{"key":"bibr6-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000344"},{"key":"bibr7-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1177\/0883073814550829"},{"key":"bibr8-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03668.x"},{"key":"bibr9-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12346"},{"key":"bibr10-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_413"},{"key":"bibr11-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1016\/j.dib.2017.10.032"},{"key":"bibr12-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2016.01.004"},{"key":"bibr13-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1136\/fn.81.2.F125"},{"key":"bibr14-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02747.x"},{"key":"bibr15-0883073819863992","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04347.x"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073819863992","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073819863992","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073819863992","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:40:19Z","timestamp":1777495219000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073819863992"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,9]]},"references-count":15,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["10.1177\/0883073819863992"],"URL":"https:\/\/doi.org\/10.1177\/0883073819863992","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,9]]}}}