{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:09:57Z","timestamp":1758161397237,"version":"3.44.0"},"reference-count":14,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pyridoxine-dependent epilepsy (PDE) (OMIM 266100) is an autosomal recessive disorder of lysine metabolism secondary to antiquitin deficiency. The prototypical presentation is intractable neonatal seizures that do not respond to conventional antiseizure medication but are well controlled by pyridoxine supplementation. Atypical forms account for one-third of the PDE spectrum and may escape early diagnosis. The common atypical presentations include the prenatal onset of seizures, seizures onset as delayed as 3 years of age, autism, arrested hydrocephalus, and fetal ventriculomegaly. Herein, we describe a 9-month-old child with neonatal-onset refractory seizures who failed two short trials of pyridoxine therapy and was later diagnosed with PDE by molecular studies. Regardless of the therapeutic response, a prolonged course of pyridoxine therapy is justified to identify delayed responders in infants with drug-refractory epilepsy of no apparent etiology.<\/jats:p>","DOI":"10.1055\/s-0040-1721137","type":"journal-article","created":{"date-parts":[[2020,12,7]],"date-time":"2020-12-07T19:25:58Z","timestamp":1607369158000},"page":"073-075","source":"Crossref","is-referenced-by-count":1,"title":["Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too"],"prefix":"10.53391","volume":"12","author":[{"given":"Aakash Chandran","family":"Chidambaram","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milan","family":"Talwar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ananthanarayanan","family":"Kasinathan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reena","family":"Gulati","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamil","family":"Selvan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,12,7]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.ymgme.2011.05.014","article-title":"Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up","volume":"104","author":"S Stockler","year":"2011","journal-title":"Mol Genet Metab"},{"issue":"02","key":"ref2","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1542\/peds.13.2.140","article-title":"Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine","volume":"13","author":"A D Hunt Jr","year":"1954","journal-title":"Pediatrics"},{"issue":"03","key":"ref3","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/nm1366","article-title":"Mutations in antiquitin in individuals with pyridoxine-dependent seizures","volume":"12","author":"P B Mills","year":"2006","journal-title":"Nat Med"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.pediatrneurol.2015.12.013","article-title":"Pyridoxine-dependent epilepsy: an expanding clinical spectrum","volume":"59","author":"C D van Karnebeek","year":"2016","journal-title":"Pediatr Neurol"},{"key":"ref5","doi-asserted-by":"crossref","DOI":"10.1016\/B978-0-444-59565-2.00050-2","volume-title":"Pyridoxine and Pyridoxalphosphate-Dependent Epilepsies: Handbook of Clinical Neurology","author":"B Plecko","year":"2013"},{"issue":"02","key":"ref6","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1055\/s-0037-1621721","article-title":"Antiquitin deficiency with adolescent onset epilepsy: molecular diagnosis in a mother of affected offsprings","volume":"49","author":"R Srinivasaraghavan","year":"2018","journal-title":"Neuropediatrics"},{"issue":"05","key":"ref7","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1177\/088307389601100519","article-title":"Pyridoxine-dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion","volume":"11","author":"N E Bass","year":"1996","journal-title":"J Child Neurol"},{"issue":"02","key":"ref8","first-page":"335","article-title":"Current treatment and management of pyridoxine-dependent epilepsy","volume":"17","author":"C DM van Karnebeek","year":"2015","journal-title":"Curr Treat Options Neurol"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"2148","DOI":"10.1093\/brain\/awq143","article-title":"Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)","volume":"133","author":"P B Mills","year":"2010","journal-title":"Brain"},{"issue":"01","key":"ref10","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/humu.20433","article-title":"Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene","volume":"28","author":"B Plecko","year":"2007","journal-title":"Hum Mutat"},{"issue":"05","key":"ref11","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/ana.21568","article-title":"Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy","volume":"65","author":"R C Gallagher","year":"2009","journal-title":"Ann Neurol"},{"issue":"06","key":"ref12","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1017\/S0012162201000767","article-title":"Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine","volume":"43","author":"E Grillo","year":"2001","journal-title":"Dev Med Child Neurol"},{"issue":"02","key":"ref13","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1002\/jimd.12045","article-title":"The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy","volume":"42","author":"C R Coughlin II","year":"2019","journal-title":"J Inherit Metab Dis"},{"issue":"12","key":"ref14","doi-asserted-by":"crossref","first-page":"2406","DOI":"10.1111\/j.1528-1167.2010.02747.x","article-title":"The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy","volume":"51","author":"L A Bok","year":"2010","journal-title":"Epilepsia"}],"container-title":["Journal of Pediatric 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