{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:07:39Z","timestamp":1777802859316,"version":"3.51.4"},"reference-count":33,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2000,11,1]],"date-time":"2000-11-01T00:00:00Z","timestamp":973036800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2000,11]]},"abstract":"<jats:p>\n                    Pyridoxine (vitamin B\n                    <jats:sub>6<\/jats:sub>\n                    ) (2q31) dependency is a rare autosomalrecessive disorder that causes a severe seizure disorder of prenatal or neonatal onset. The abnormality appears to inhibit the binding of vitamin B6 to the enzyme glutamic acid decarboxylase-1, which is needed for the biosynthesis of \u03b3-aminobutyric acid (GABA). Most patients with pyridoxine-dependent seizures require lifelong treatment with pyridoxine. The full range of associated symptomatology is unknown since fewer than 100 cases have been reported. A majority of cases are mentally retarded. We report a 15-year-old boy with pyridoxine-dependent seizures, nonpyridoxine-dependent seizures, severe mental retardation, autistic disorder, aerophagia, breath holding, and self-injury. This complex outcome should alert clinicians to the wide range of neuropsychiatric outcomes associated with this disorder. ( J Child Neurol 2000;15: 763-765).\n                  <\/jats:p>","DOI":"10.1177\/088307380001501111","type":"journal-article","created":{"date-parts":[[2008,6,3]],"date-time":"2008-06-03T05:13:24Z","timestamp":1212470004000},"page":"763-765","source":"Crossref","is-referenced-by-count":20,"title":["A 15-Year Follow-Up of a Boy With Pyridoxine (Vitamin B6)-Dependent Seizures With Autism, Breath Holding, and Severe Mental Retardation"],"prefix":"10.1177","volume":"15","author":[{"given":"Larry","family":"Burd","sequence":"first","affiliation":[{"name":"Department of Pediatrics, School of Medicine and Health Sciences University of North Dakota Grand Forks, North Dakota,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy","family":"Stenehjem","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine and Health Sciences University of North Dakota Grand Forks, North Dakota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa A.","family":"Franceschini","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine and Health Sciences University of North Dakota Grand Forks, North Dakota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob","family":"Kerbeshian","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, School of Medicine and Health Sciences University of North Dakota Grand Forks, North Dakota"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2000,11,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1542\/peds.13.2.140","volume":"13","author":"Hunt AD","year":"1954","journal-title":"Pediatrics"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70384-1"},{"key":"atypb3","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1111\/j.1469-8749.1996.tb15060.x","volume":"39","author":"Baxter P.","year":"1996","journal-title":"Dev Med Child Neurol"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1007\/BF01958419"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1136\/adc.42.222.201"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-994436"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1136\/fn.81.2.F125"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1136\/adc.58.6.415"},{"key":"atypb9","first-page":"117","volume":"17","author":"Goutieres F.","year":"1984","journal-title":"Neurol"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1073032"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.6.2115"},{"key":"atypb12","doi-asserted-by":"crossref","DOI":"10.56021\/9780801857423","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1998","edition":"12"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1969.tb54259.x"},{"key":"atypb14","unstructured":"Scriver CR, Perry TL: Pyridoxine dependency, in Scriver CR, Beaudet AL, Shy WS, et al (eds): The Metabolic Basis of Inherited Disease , 6th ed. 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