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By genome sequencing, we identified a nonsense variant in the first exon of <jats:italic><jats:styled-content style=\"fixed-case\">PI<\/jats:styled-content>4K2A<\/jats:italic> that was homozygous in both affected individuals and was absent from, or heterozygous in, seven unaffected siblings. <jats:italic><jats:styled-content style=\"fixed-case\">PI<\/jats:styled-content>4K2A<\/jats:italic> is highly expressed in the brain and a mouse model displays a neurological phenotype, implicating <jats:italic><jats:styled-content style=\"fixed-case\">PI<\/jats:styled-content>4K2A<\/jats:italic> as a new disease gene for a neurological disorder.<\/jats:p>","DOI":"10.1002\/acn3.677","type":"journal-article","created":{"date-parts":[[2018,10,25]],"date-time":"2018-10-25T06:47:23Z","timestamp":1540450043000},"page":"1617-1621","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["<i><scp>PI<\/scp>4K2A<\/i> deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome"],"prefix":"10.1002","volume":"5","author":[{"given":"Reem A.","family":"Alkhater","sequence":"first","affiliation":[{"name":"Program in Genetics and Genome Biology The Hospital for Sick Children Toronto Ontario Canada"},{"name":"Johns\u2019 Hopkins Aramco Healthcare Dhahran Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen W.","family":"Scherer","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology The Hospital for Sick Children Toronto Ontario Canada"},{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario Canada"},{"name":"Department of Molecular Genetics University of Toronto Toronto Canada"},{"name":"McLaughlin Centre University of Toronto Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berge A.","family":"Minassian","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology The Hospital for Sick Children Toronto Ontario Canada"},{"name":"Department of Pediatrics University of Texas Southwestern Dallas Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Walker","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology The Hospital for Sick Children Toronto Ontario Canada"},{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,10,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.06.014"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26808"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.119"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3792"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100918"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.12.007"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11690"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_9_11_1","unstructured":"AkbariMR FattahiZ BeheshtianM et al.Iranome: A human genome variation database of eight major ethnic groups that live in Iran and neighboring countries in the Middle East. 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