{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T08:55:08Z","timestamp":1791190508335,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,7,22]],"date-time":"2014-07-22T00:00:00Z","timestamp":1405987200000},"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":[[2014,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>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\">KCNQ<\/jats:styled-content>3<\/jats:italic> were originally described in infants with benign familial neonatal seizures (<jats:styled-content style=\"fixed-case\">BFNS<\/jats:styled-content>). Recently, <jats:italic><jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>2<\/jats:italic> mutations have also been shown to cause epileptic encephalopathy. This report describes three infants carrying abnormalities of <jats:italic><jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>2<\/jats:italic> and one infant with a <jats:italic><jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>3<\/jats:italic> mutation. The different <jats:italic><jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>2<\/jats:italic> abnormalities led to different phenotypes and included a novel intragenic duplication, c.419_430dup, in an infant with <jats:styled-content style=\"fixed-case\">BFNS<\/jats:styled-content>, a 0.761Mb 20q13.3 contiguous gene deletion in an infant with seizures at 3\u00a0months, and a recurrent de novo missense mutation c.881C&gt;T in a neonate with \u201c<jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>2\u2010encephalopathy.\u201d The mutation in <jats:italic><jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>3,<\/jats:italic> c.989G&gt;A, was novel and occurred in an infant with <jats:styled-content style=\"fixed-case\">BFNS<\/jats:styled-content>. <jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>\u2010related seizures often present with tonic\/clonic manifestations, cyanosis, or apnea. Certain genotype\u2013phenotype correlations help predict outcome. Similarly affected family members suggests benign familial \u201c<jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>\u2010related\u201d epilepsy, whereas neonatal seizures with unexplained multifocal epileptiform discharges or burst suppression on electroencephalography, and acute abnormalities of the basal ganglia\/thalami are suggestive of <jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>2\u2010encephalopathy, which is often sporadic. 20q13.33 contiguous gene deletion encompassing <jats:italic><jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>2<\/jats:italic> may harbor atypical features depending on deletion size. Although the phenotype often guides direct targeted gene testing in these conditions, array <jats:styled-content style=\"fixed-case\">CGH<\/jats:styled-content> should also be considered in suspected sporadic or atypical familial cases to diagnose 20q13.33 deletion.<\/jats:p>","DOI":"10.1111\/epi.12715","type":"journal-article","created":{"date-parts":[[2014,7,22]],"date-time":"2014-07-22T20:40:54Z","timestamp":1406061654000},"source":"Crossref","is-referenced-by-count":85,"title":["The variable phenotypes of <scp>KCNQ<\/scp>\u2010related epilepsy"],"prefix":"10.1111","volume":"55","author":[{"given":"Nicholas M.","family":"Allen","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology &amp; Clinical Neurophysiology Children's University Hospital Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Mannion","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology &amp; Clinical Neurophysiology Children's University Hospital Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Conroy","sequence":"additional","affiliation":[{"name":"Academic Centre on Rare Diseases School of Medicine and Medical Science University College Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally A.","family":"Lynch","sequence":"additional","affiliation":[{"name":"Academic Centre on Rare Diseases School of Medicine and Medical Science University College Dublin Ireland"},{"name":"Department of Clinical Genetics Children's University Hospital Temple St. Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amre","family":"Shahwan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology &amp; Clinical Neurophysiology Children's University Hospital Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan","family":"Lynch","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology &amp; Clinical Neurophysiology Children's University Hospital Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary D.","family":"King","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology &amp; Clinical Neurophysiology Children's University Hospital Dublin Ireland"},{"name":"Academic Centre on Rare Diseases School of Medicine and Medical Science University College Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,7,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12089"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000339494.76377.d6"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2012.10.007"},{"key":"e_1_2_7_5_1","first-page":"135","article-title":"Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures","volume":"1","author":"Pascual KT","year":"2013","journal-title":"Epilepsy Behav Case Rep"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2006.10.010"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0920-1211(03)00037-8"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22644"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000435296.72400.a1"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12200"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-80"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23620"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000060"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24080"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2009.06.064"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2007.12.005"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22500"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181bc0158"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31789"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30966"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35633"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012462"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201784"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.5698\/1535-7511-12.4.150"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1216867110"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.12715","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.12715","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T15:48:55Z","timestamp":1695570535000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.12715"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,22]]},"references-count":24,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1111\/epi.12715"],"URL":"https:\/\/doi.org\/10.1111\/epi.12715","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,22]]}}}