{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T07:26:31Z","timestamp":1773645991668,"version":"3.50.1"},"reference-count":12,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2017,3,23]]},"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:p>Protocadherin 19 (PCDH19)-related epilepsy (OMIM 300088) is a distinctive clinical syndrome limited to females. We describe a 17-year-old girl who presented to a regional epilepsy clinic with a history of recurrent febrile seizures in infancy. Genetic analysis of the <jats:italic>PCDH19<\/jats:italic> gene revealed a novel heterozygous mutation within a highly conserved region of the gene. Patients with <jats:italic>PCDH19<\/jats:italic> mutations present with clusters of seizures associated with fever. While fever-induced seizures are common to children with <jats:italic>PCDH19<\/jats:italic> and <jats:italic>SCN1A<\/jats:italic> mutations, there are certain clinical features that distinguish these genetic syndromes from each other. <jats:italic>PCDH19<\/jats:italic> mutation demonstrates an unusual form of transmission such that only heterozygous females develop the phenotype. De novo mutations account for most cases although the inheritance is sometimes familial patterns of inheritance. Hemizygous males are typically unaffected. Identification of the mutation provides patients and their families with an explanation for their clinical presentation, important prognostic information and an opportunity for genetic counselling.<\/jats:p>","DOI":"10.1136\/practneurol-2016-001521","type":"journal-article","created":{"date-parts":[[2017,4,28]],"date-time":"2017-04-28T20:55:16Z","timestamp":1493412916000},"page":"314-317","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["PCDH19-related epilepsy: a rare but recognisable clinical syndrome in females"],"prefix":"10.1136","volume":"17","author":[{"given":"Shane","family":"Lyons","sequence":"first","affiliation":[{"name":"Centre for the Prevention of Stroke and Dementia, Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Marnane","sequence":"additional","affiliation":[{"name":"Mater Misericordiae University Hospital,, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleanor","family":"Reavey","sequence":"additional","affiliation":[{"name":"West of Scotland Genetic Services, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Williams","sequence":"additional","affiliation":[{"name":"West of Scotland Genetic Services, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Costello","sequence":"additional","affiliation":[{"name":"Cork University Hospital, Cork, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2017,4,28]]},"reference":[{"key":"2025090410184954000_17.4.314.1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"2025090410184954000_17.4.314.2","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"2025090410184954000_17.4.314.3","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm338"},{"key":"2025090410184954000_17.4.314.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng.149"},{"key":"2025090410184954000_17.4.314.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80382-7"},{"key":"2025090410184954000_17.4.314.6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.seizure.2015.02.006","article-title":"Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy","volume":"27","author":"Higurashi","year":"2015","journal-title":"Seizure"},{"key":"2025090410184954000_17.4.314.7","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0353-1"},{"key":"2025090410184954000_17.4.314.8","doi-asserted-by":"crossref","first-page":"2111","DOI":"10.1111\/j.1528-1167.2012.03649.x","article-title":"Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy","volume":"53","author":"Marini","year":"2012","journal-title":"Epilepsia"},{"key":"2025090410184954000_17.4.314.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2014.10.019"},{"key":"2025090410184954000_17.4.314.10","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-92"},{"key":"2025090410184954000_17.4.314.11","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.seizure.2016.01.006","article-title":"Effectiveness of antiepileptic therapy in patients with PCDH19 mutations","volume":"35","author":"Lotte","year":"2016","journal-title":"Seizure"},{"key":"2025090410184954000_17.4.314.12","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000381","article-title":"Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females","volume":"5","author":"Depienne","year":"2009","journal-title":"PLoS Genet"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/practneurol-2016-001521","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T17:19:01Z","timestamp":1757006341000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/practneurol-2016-001521"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,28]]},"references-count":12,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2017,7,13]]},"published-print":{"date-parts":[[2017,8]]}},"alternative-id":["10.1136\/practneurol-2016-001521"],"URL":"https:\/\/doi.org\/10.1136\/practneurol-2016-001521","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,28]]}}}