{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T04:59:11Z","timestamp":1791176351335,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,4,8]],"date-time":"2013-04-08T00:00:00Z","timestamp":1365379200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Heterozygous mutations in <jats:italic><jats:styled-content style=\"fixed-case\">PRRT<\/jats:styled-content>2<\/jats:italic> have recently been identified as the major cause of autosomal dominant benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis syndrome (ICCA), and paroxysmal kinesigenic dyskinesia (PKD). Homozygous mutations in <jats:italic><jats:styled-content style=\"fixed-case\">PRRT<\/jats:styled-content>2<\/jats:italic> have also been reported in two families with intellectual disability (<jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content>) and seizures. Heterozygous mutations in the genes <jats:italic><jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>2<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>2A<\/jats:italic> cause the two other autosomal dominant seizure disorders of infancy: benign familial neonatal epilepsy and benign familial neonatal\u2010infantile epilepsy. Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>2<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>2A<\/jats:italic> also contribute to severe infantile epileptic encephalopathies (IEEs) in which seizures and intellectual disability co\u2010occur. We therefore hypothesized that <jats:italic><jats:styled-content style=\"fixed-case\">PRRT<\/jats:styled-content>2<\/jats:italic> mutations may also underlie cases of IEE. We examined <jats:italic><jats:styled-content style=\"fixed-case\">PRRT<\/jats:styled-content>2<\/jats:italic> for heterozygous, compound heterozygous or homozygous mutations to determine their frequency in causing epileptic encephalopathies (EEs). Two hundred twenty patients with EEs with onset by 2\u00a0years were phenotyped. An assay for the common <jats:italic><jats:styled-content style=\"fixed-case\">PRRT<\/jats:styled-content>2<\/jats:italic> c.649\u2010650insC mutation and high resolution\u2010melt analysis for mutations in the remaining exons of <jats:italic><jats:styled-content style=\"fixed-case\">PRRT<\/jats:styled-content>2<\/jats:italic> were performed. Neither the common mutation nor any other pathogenic variants in <jats:italic><jats:styled-content style=\"fixed-case\">PRRT<\/jats:styled-content>2<\/jats:italic> were detected in the 220 patients. Our findings suggest that mutations in <jats:italic><jats:styled-content style=\"fixed-case\">PRRT<\/jats:styled-content>2<\/jats:italic> are not a common cause of IEEs.<\/jats:p>","DOI":"10.1111\/epi.12167","type":"journal-article","created":{"date-parts":[[2013,4,8]],"date-time":"2013-04-08T13:46:37Z","timestamp":1365428797000},"source":"Crossref","is-referenced-by-count":13,"title":["Mutations in <i><scp>PRRT<\/scp>2<\/i> are not a common cause of infantile epileptic encephalopathies"],"prefix":"10.1111","volume":"54","author":[{"given":"Sarah E.","family":"Heron","sequence":"first","affiliation":[{"name":"Epilepsy Research Program School of Pharmacy and Medical Sciences University of South Australia Adelaide South Australia Australia"},{"name":"Sansom Institute for Health Research University of South Australia Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yeh Sze","family":"Ong","sequence":"additional","affiliation":[{"name":"Epilepsy Research Program School of Pharmacy and Medical Sciences University of South Australia Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone C.","family":"Yendle","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine The University of Melbourne, Austin Health Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacinta M.","family":"McMahon","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine The University of Melbourne, Austin Health Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel F.","family":"Berkovic","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine The University of Melbourne, Austin Health Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine The University of Melbourne, Austin Health Melbourne Victoria Australia"},{"name":"Florey Institute and Department of Paediatrics Royal Children's Hospital The University of Melbourne Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leanne M.","family":"Dibbens","sequence":"additional","affiliation":[{"name":"Epilepsy Research Program School of Pharmacy and Medical Sciences University of South Australia Adelaide South Australia Australia"},{"name":"Sansom Institute for Health Research University of South Australia Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,4,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.003"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12009"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2011.11.001"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.50"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182752c6c"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22126"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2011.09.016"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22644"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.12167","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.12167","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T11:34:16Z","timestamp":1698665656000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.12167"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,8]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1111\/epi.12167"],"URL":"https:\/\/doi.org\/10.1111\/epi.12167","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,8]]}}}