{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:12:20Z","timestamp":1761718340307,"version":"3.37.3"},"reference-count":38,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,9,19]],"date-time":"2014-09-19T00:00:00Z","timestamp":1411084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Genetics Commission-Italian League Against Epilepsy","award":["none"],"award-info":[{"award-number":["none"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Autosomal dominant lateral temporal epilepsy (<jats:styled-content style=\"fixed-case\">ADLTE<\/jats:styled-content>) is a focal epileptic syndrome characterized by auditory or aphasic auras. Mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">LGI<\/jats:styled-content>1<\/jats:italic> gene account for &lt;50% of <jats:styled-content style=\"fixed-case\">ADLTE<\/jats:styled-content> families. To identify copy number variants (<jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s) related to <jats:styled-content style=\"fixed-case\">ADLTE<\/jats:styled-content>, we examined a collection of <jats:styled-content style=\"fixed-case\">ADLTE<\/jats:styled-content> families without <jats:italic><jats:styled-content style=\"fixed-case\">LGI<\/jats:styled-content>1<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Twenty\u2010one families were included based on a history of focal seizures with auditory and\/or receptive aphasic symptoms in two or more individuals, absence of brain abnormalities, and negative <jats:italic><jats:styled-content style=\"fixed-case\">LGI<\/jats:styled-content>1<\/jats:italic> test. <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> suitable for single nucleotide polymorphism\u2010array analysis was genotyped using the high\u2010density HumanOmni1\u2010Quad v1.0 beadchip (Illumina). <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s were inferred using the Penn<jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content> algorithm. Selected <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s were validated by real\u2010time quantitative polymerase chain reaction (q<jats:styled-content style=\"fixed-case\">PCR)<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We analyzed 62 affected and 114 unaffected members of our study families and identified a total of 11,214 <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s, corresponding to 1,890 unique regions with an average size of 67.3\u00a0kb. Most <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s were &lt;50\u00a0kb, whereas a small proportion (1.2%) exceeded 500\u00a0kb. We identified 12 rare <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s that segregated with lateral temporal epilepsy in single families. Particularly, we found rare microdeletions within or near two genes, <jats:italic><jats:styled-content style=\"fixed-case\">RBFOX<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">NRXN<\/jats:styled-content>1<\/jats:italic>, previously shown to harbor deletions associated with idiopathic generalized epilepsy, and a microduplication in the proximal region of chromosome 1q21.1, where duplications have been associated with various neurodevelopmental disorders and epilepsy. We also found numerous polymorphic <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s in the affected members of one or more families, including a deletion of the <jats:italic><jats:styled-content style=\"fixed-case\">PCDHA<\/jats:styled-content>8\/10<\/jats:italic> genes, which was enriched in the patients of our family cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>Our results provide clues on genes for susceptibility to <jats:styled-content style=\"fixed-case\">ADLTE<\/jats:styled-content>, particularly in those families where the inheritance pattern is less compatible with autosomal dominance. Some of these genes also confer risk for other epilepsy syndromes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.12767","type":"journal-article","created":{"date-parts":[[2014,9,19]],"date-time":"2014-09-19T18:56:14Z","timestamp":1411152974000},"page":"1651-1658","source":"Crossref","is-referenced-by-count":11,"title":["Copy number variations and susceptibility to lateral temporal epilepsy: A study of 21 pedigrees"],"prefix":"10.1111","volume":"55","author":[{"given":"Manuela","family":"Fanciulli","sequence":"first","affiliation":[{"name":"Porto Conte Ricerche Alghero Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Pasini","sequence":"additional","affiliation":[{"name":"Unit of Neurology Bellaria Hospital IRCCS of Neurological Sciences Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandro","family":"Malacrida","sequence":"additional","affiliation":[{"name":"EURAC\u2010Institute of Emergency Mountain Medicine Bolzano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Neuromuscular Disease Unit Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health \u201cG. Gaslini\u201d Institute University of Genoa Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Striano","sequence":"additional","affiliation":[{"name":"Department of Neurological Sciences Federico II University Napoli Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Michelucci","sequence":"additional","affiliation":[{"name":"Unit of Neurology Bellaria Hospital IRCCS of Neurological Sciences Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruth","family":"Ottman","sequence":"additional","affiliation":[{"name":"Departments of Epidemiology and Neurology and the G.H. Sergievsky Center Columbia University New York New York U.S.A"},{"name":"Division of Epidemiology New York State Psychiatric Institute New York New York U.S.A"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Nobile","sequence":"additional","affiliation":[{"name":"CNR\u2010Neuroscience Institute Section of Padua Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,9,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1138659"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07229"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.292"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000962"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp311"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0595-56"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02122.x"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12194"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20925"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318247ccbf"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.238"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182518328"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6861907"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06742"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/519497"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm569"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0805384"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.6"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/510919"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0004474"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21649"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.12.014"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90396-8"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1086\/368060"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2950329"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22645"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.1999"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0145-4"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.841"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12084"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0073323"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12078"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm323"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn351"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0801639105"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2008.04.013"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.188"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.09.001"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.12767","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.12767","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T16:39:31Z","timestamp":1695573571000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.12767"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,19]]},"references-count":38,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1111\/epi.12767"],"URL":"https:\/\/doi.org\/10.1111\/epi.12767","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"type":"print","value":"0013-9580"},{"type":"electronic","value":"1528-1167"}],"subject":[],"published":{"date-parts":[[2014,9,19]]}}}