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The related diseases include autosomal recessive progressive myoclonus epilepsy \u2010 ataxia syndrome, neural tube defects associated with heterozygous mutations, agenesis of corpus callosum, polymicrogyria, and autistic spectrum disorder. Reported here is a young boy with a new variant (NM_153026.2:c.820G&gt;A, p.Ala274Thr) presenting with an early infantile epileptic encephalopathy with developmental arrest.<\/jats:p>","DOI":"10.1002\/ajmg.a.40625","type":"journal-article","created":{"date-parts":[[2018,10,22]],"date-time":"2018-10-22T08:45:46Z","timestamp":1540197946000},"page":"2841-2845","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["<i>PRICKLE1<\/i>\u2010related early onset epileptic encephalopathy"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7664-5807","authenticated-orcid":false,"given":"Mario","family":"Mastrangelo","sequence":"first","affiliation":[{"name":"Department of Human Neuroscience \u201cSapienza, University of Rome\u201d  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Tolve","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine \u201cSapienza, University of Rome\u201d  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Martinelli","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience \u201cSapienza, University of Rome\u201d  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia P.","family":"Di Noia","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience \u201cSapienza, University of Rome\u201d  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Parrini","sequence":"additional","affiliation":[{"name":"Neuroscience and Neurogenetics Department Meyer Children\u2019s Hospital, University of Florence  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Leuzzi","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience \u201cSapienza, University of Rome\u201d  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,10,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/01677063.2015.1088847"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.003"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21589"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1403357111"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005022"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.12.012"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/01677063.2018.1473862"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.40625","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.40625","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T09:49:12Z","timestamp":1694684952000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.40625"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,22]]},"references-count":7,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["10.1002\/ajmg.a.40625"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.40625","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,22]]},"assertion":[{"value":"2018-07-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-08-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}