{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T02:07:55Z","timestamp":1771466875650,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,6,15]],"date-time":"2021-06-15T00:00:00Z","timestamp":1623715200000},"content-version":"vor","delay-in-days":75,"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":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Most families with genetic epilepsy with febrile seizures plus show a mutation in the sodium channel alpha\u00a01 subunit gene, however, but there is much phenotypic heterogeneity and focal epilepsy remains relatively rare. Here, we report a family with electroclinical features indicative of temporal\u2010parietal\u2010occipital carrefour epilepsy with common occurrence of post\u2010ictal migraine. We studied a four\u2010generation family including nine affected subjects by means of EEG and MRI. Genetic testing was performed by targeted re\u2010sequencing (gene panel). In most patients, seizure semiology included cognitive, autonomic, and emotional symptoms, eventually evolving towards sensory visual phenomena. Focal sensory vestibular seizures and changes in body perception were also reported in some cases. Post\u2010ictal migraine was common, occurring in five out of the six (83%) epilepsy patients. A missense mutation (c.1130 G&gt;A; p.R377Q) affecting the S5\u2010S6 segment (pore region) of the sodium channel alpha\u00a01 subunit was identified in all affected and four unaffected subjects. Temporal\u2010parietal\u2010occipital carrefour epilepsy is part of the genetic epilepsy with febrile seizures plus spectrum. The electroclinical features in this family support the involvement of a genetically impaired neural network. High prevalence of post\u2010ictal migraine suggests the role of posterior brain areas in the clinical expression of this gene defect.<\/jats:p>","DOI":"10.1684\/epd.2021.1266","type":"journal-article","created":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T13:30:49Z","timestamp":1620912649000},"page":"397-401","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Temporal\u2010parietal\u2010occipital epilepsy in GEFS+ associated with <i>SCN1A<\/i> mutation"],"prefix":"10.1002","volume":"23","author":[{"given":"Antonella","family":"Riva","sequence":"first","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit IRCCS \u201cG. Gaslini\u201d Institute Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonietta","family":"Coppola","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive and Odontostomatological Sciences Federico II University Napoli Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ganna","family":"Balagura","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit IRCCS \u201cG. Gaslini\u201d Institute Genova Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcello","family":"Scala","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit IRCCS \u201cG. Gaslini\u201d Institute Genova Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Iacomino","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics IRCCS Giannina Gaslini Institute Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Marchese","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit IRCCS \u201cG. Gaslini\u201d Institute Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabetta","family":"Amadori","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit IRCCS \u201cG. Gaslini\u201d Institute Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"Lattanzi","sequence":"additional","affiliation":[{"name":"Neurological Clinic, Department of Experimental and Clinical Medicine Marche Polytechnic University Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Meo","sequence":"additional","affiliation":[{"name":"Neurology Outpatients Service Naples Local Health Unit Napoli Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Striano","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive and Odontostomatological Sciences Federico II University Napoli Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Salpietro","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit IRCCS \u201cG. Gaslini\u201d Institute Genova Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Italy"},{"name":"Unit of Medical Genetics IRCCS Giannina Gaslini Institute Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Minetti","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit IRCCS \u201cG. Gaslini\u201d Institute Genova Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit IRCCS \u201cG. Gaslini\u201d Institute Genova Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonilda","family":"Bilo","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive and Odontostomatological Sciences Federico II University Napoli Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.3.479"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004384"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2019.1046"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1819.2003.01136.x"},{"issue":"2","key":"e_1_2_6_6_1","first-page":"SI25","article-title":"Cerebral imaging in childhood epilepsy: what's new?","volume":"3","author":"Chiron C.","year":"2001","journal-title":"Epileptic Disord"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.2002.26901.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000184518.52005.f9"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2011.05.017"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/13.9.994"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1989.00520460060015"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.4.489"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2021.1266","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:08:01Z","timestamp":1710778081000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2021.1266"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["10.1684\/epd.2021.1266"],"URL":"https:\/\/doi.org\/10.1684\/epd.2021.1266","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4]]},"assertion":[{"value":"2020-06-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}