{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T17:21:38Z","timestamp":1777742498690,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T00:00:00Z","timestamp":1658188800000},"content-version":"vor","delay-in-days":48,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Developmental and epileptic encephalopathies (DEE) in children have an everexpanding range of rare causes. Mutations in <jats:italic>ITPA<\/jats:italic> have been recently described as causative of DEE, but only a small number of patients have been reported so far. We describe two Indian children with novel variants in the <jats:italic>ITPA<\/jats:italic> gene. Both patients had characteristic, previously described, neuroradiological findings that helped us suspect this condition even before genetic evaluation. In addition, we present new and rarely reported clinical findings associated with this condition: migrating partial epilepsy, fever\u2010triggered seizures, movement disorder including oculogyria and dystonic tremor. One of the patients also had high cerebrospinal fluid glycine levels. Both patients had drug\u2010responsive epilepsy, in contrast to drug\u2010resistant seizures in previously reported patients. These patients reiterate the utility of awareness of specific neuroradiological findings and subsequent genetic evaluation to help make a precise diagnosis. Our report also extends the clinical spectrum and provides insight into possible biochemical causes for the neuroimaging findings seen in this condition.<\/jats:p>","DOI":"10.1684\/epd.2022.1424","type":"journal-article","created":{"date-parts":[[2022,6,30]],"date-time":"2022-06-30T10:17:43Z","timestamp":1656584263000},"page":"583-588","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<i>ITPA<\/i>\u2010associated developmental and epileptic encephalopathy: characteristic neuroradiological features with novel clinical and biochemical findings"],"prefix":"10.1002","volume":"24","author":[{"given":"Meenal","family":"Garg","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology Surya Hospitals Jaipur India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jatinder","family":"Goraya","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Department of Paediatrics Dayanand Medical College and Hospital Ludhiana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gurpreet","family":"Kochar","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Department of Paediatrics SPS Apollo Hospitals Ludhiana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivek","family":"Jain","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Department of Paediatrics Santokba Durlabhji Memorial Hospital Jaipur India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,19]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13709"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24496"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.16427"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61103"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-020-0765-3"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007605"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000011719"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2013.08.001"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.5483\/BMBRep.2012.45.4.259"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/cdd.2009.53"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.16427"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13889"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12072"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2022.1424","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,20]],"date-time":"2024-04-20T07:37:27Z","timestamp":1713598647000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2022.1424"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1684\/epd.2022.1424"],"URL":"https:\/\/doi.org\/10.1684\/epd.2022.1424","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6]]},"assertion":[{"value":"2021-12-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}