{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:22:11Z","timestamp":1787023331774,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,12,27]],"date-time":"2018-12-27T00:00:00Z","timestamp":1545868800000},"content-version":"vor","delay-in-days":26,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>Aims<\/jats:italic>\n                    . Protocadherin 19 (\n                    <jats:italic>PCDH19)<\/jats:italic>\n                    mutations have been identified in epilepsy in females with mental retardation as well as patients with a \u201cDravet\u2010like\u201d phenotype. We aimed to elucidate the electroclinical phenotype associated with\n                    <jats:italic>PCDH19<\/jats:italic>\n                    mutation, which is currently difficult to identify at onset leading to a delay in diagnosis.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Methods<\/jats:italic>\n                    . We retrospectively reviewed clinical and EEG data for 13 consecutive patients with\n                    <jats:italic>PCDH19<\/jats:italic>\n                    mutations or deletions diagnosed at our centers from 2009 to 2011, and followed these patients into adolescence and adulthood.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Results<\/jats:italic>\n                    . We identified a specific temporal sequence of electroclinical manifestations, identified as three main stages. During the first two years of life, previously healthy girls presented with clusters of afebrile focal seizures. Early seizures were recorded on video\u2010EEG in 10\/13 patients, and were focal (\n                    <jats:italic>n<\/jats:italic>\n                    =8) with temporo\u2010occipital and frontal onset. Three patients with strictly stereotyped focal seizures underwent a pre\u2010surgical work\u2010up. Two patients started with generalized seizures, one presenting with early\u2010onset atypical absences and the other generalized tonic\u2010clonic seizures. During the course of the disease, from two to 10 years, seizures became fever\u2010sensitive and continued to recur in clusters, although these were less frequent. Seizures were mainly described by eyewitnesses as generalized tonic\u2010clonic, even though three of five seizures, recorded on EEG, showed a focal onset with fast bilateral spread. Atypical absences and fever\u2010induced tonic\u2010clonic seizures remained frequent in only one patient until the age of 16 years. No specific treatment or combination appeared to be more effective over another. Various degrees of cognitive or behavioural impairment were reported for all patients, but it was in the second decade that behavioural disturbances prevailed with hetero\u2010aggressiveness and behaviour associated with frontal lobe abnormalities leading to psychosis in two.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Conclusions<\/jats:italic>\n                    . Early recognition of the above features should improve early diagnosis and long\u2010term management of patients with epilepsy and\n                    <jats:italic>PCDH19<\/jats:italic>\n                    mutations.\n                  <\/jats:p>","DOI":"10.1684\/epd.2018.1009","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T09:24:29Z","timestamp":1564737869000},"page":"457-467","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Early and long\u2010term electroclinical features of patients with epilepsy and\n                    <i>PCDH19<\/i>\n                    mutation"],"prefix":"10.1002","volume":"20","author":[{"given":"Nicole","family":"Chemaly","sequence":"first","affiliation":[{"name":"Pediatric Neurology Department, Centre de R\u00e9f\u00e9rence des \u00c9pilepsies Rares, Necker Enfants Malades Hospital, Paris"},{"name":"Inserm U1129, Paris; University Paris Descartes; CEA, Gif sur Yvette"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Losito","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Centre de R\u00e9f\u00e9rence des \u00c9pilepsies Rares, Necker Enfants Malades Hospital, Paris"},{"name":"Inserm U1129, Paris; University Paris Descartes; CEA, Gif sur Yvette"},{"name":"Department of Clinical Neurophysiology, Necker Enfants Malades Hospital, Paris"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Marc","family":"Pinard","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Raymond Poincar\u00e9 Hospital, Garches"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Gautier","sequence":"additional","affiliation":[{"name":"Pediatric Department, CHU Nantes, Nantes"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Villeneuve","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, H\u00f4pital Henri Gastaut, Marseille"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Sophie","family":"Arbues","sequence":"additional","affiliation":[{"name":"Pediatric Department, CH Mignot, Versailles"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"An","sequence":"additional","affiliation":[{"name":"Neurology Department, Centre de R\u00e9f\u00e9rence des \u00c9pilepsies Rares, Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Desguerre","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Centre de R\u00e9f\u00e9rence des \u00c9pilepsies Rares, Necker Enfants Malades Hospital, Paris"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Dulac","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Centre de R\u00e9f\u00e9rence des \u00c9pilepsies Rares, Necker Enfants Malades Hospital, Paris"},{"name":"Inserm U1129, Paris; University Paris Descartes; CEA, Gif sur Yvette"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Chiron","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Centre de R\u00e9f\u00e9rence des \u00c9pilepsies Rares, Necker Enfants Malades Hospital, Paris"},{"name":"Inserm U1129, Paris; University Paris Descartes; CEA, Gif sur Yvette"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kaminska","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Centre de R\u00e9f\u00e9rence des \u00c9pilepsies Rares, Necker Enfants Malades Hospital, Paris"},{"name":"Inserm U1129, Paris; University Paris Descartes; CEA, Gif sur Yvette"},{"name":"Department of Clinical Neurophysiology, Necker Enfants Malades Hospital, Paris"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rima","family":"Nabbout","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Centre de R\u00e9f\u00e9rence des \u00c9pilepsies Rares, Necker Enfants Malades Hospital, Paris"},{"name":"Inserm U1129, Paris; University Paris Descartes; CEA, Gif sur Yvette"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,12,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.2001.22001.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2016.04.009"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2011.03.005"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2014.10.019"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22029"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000381"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21373"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.149"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318217e7b6"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.02994.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13670"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2011.10.014"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.4161\/cam.5.2.14374"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13595"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2017.05.037"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2016-001521"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181ed9e67"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03649.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31820a9642"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm338"},{"key":"e_1_2_6_23_1","volume-title":"Psychoeducational Profile (PEP-3)","author":"Schopler E.","year":"2005"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.14003"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03063.x"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03193.x"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12532"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2016.05.015"},{"key":"e_1_2_6_29_1","volume-title":"WPPSI\u2010III: manuel d\u2019interpretation","author":"Wechsler D.","year":"2004"},{"key":"e_1_2_6_30_1","volume-title":"WISC\u2010IV: manuel d\u2019interpretation","author":"Wechsler D.","year":"2005"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2018.1009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T12:05:40Z","timestamp":1710763540000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2018.1009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":29,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["10.1684\/epd.2018.1009"],"URL":"https:\/\/doi.org\/10.1684\/epd.2018.1009","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12]]},"assertion":[{"value":"2018-01-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}