{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T20:15:30Z","timestamp":1769458530769,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,3,27]],"date-time":"2019-03-27T00:00:00Z","timestamp":1553644800000},"content-version":"vor","delay-in-days":54,"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":[[2019,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Aims<\/jats:italic>. Familial focal epilepsy with variable foci is a relatively rare autosomal disease with an unclear incidence, which is characterized by focal seizures arising from different cortical regions in different family members.<\/jats:p><jats:p><jats:italic>Methods<\/jats:italic>. We describe three members of a two\u2010generation Argentine family with familial focal epilepsy with variable foci syndrome and a <jats:italic>DEPDC5<\/jats:italic> gene mutation.<\/jats:p><jats:p><jats:italic>Results<\/jats:italic>. The mean onset age was nine years old. The father experienced episodes with occipital semiology and both siblings exhibited frontal lobe seizures. Their neurological examination and neuroimaging studies were normal. All three patients are currently seizure\u2010free, in spite of initially experiencing frequent seizures. Complete exome sequencing revealed a new <jats:italic>DEPDC5<\/jats:italic> gene mutation (NM_001242896: c.4718T&gt;C; p.L1573P).<\/jats:p><jats:p><jats:italic>Conclusions<\/jats:italic>. This study of a family with clinical characteristics that met all the criteria for familial focal epilepsy with variable foci demonstrates the usefulness of exome sequencing as a diagnostic tool. [<jats:italic>Published with video sequence on<\/jats:italic> <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.epilepticdisorders.com\">www.epilepticdisorders.com<\/jats:ext-link>]<\/jats:p>","DOI":"10.1684\/epd.2019.1025","type":"journal-article","created":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T16:30:16Z","timestamp":1706027416000},"page":"42-47","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<i>DEPDC5<\/i> mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family"],"prefix":"10.1002","volume":"21","author":[{"given":"Marina","family":"Aberastury","sequence":"first","affiliation":[{"name":"Division of Neuropediatrics Italian Hospital of Buenos Aires, CABA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romina","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Division of Neuropediatrics Italian Hospital of Buenos Aires, CABA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"C\u00f3rdoba","sequence":"additional","affiliation":[{"name":"Consultorio y laboratorio de Neurogen\u00e9tica, Centro Universitario de Neurolog\u00eda \u201cJ.M. Ramos Mej\u00eda\u201d and Divisi\u00f3n Neurolog\u00eda, Hospital JM Ramos Mej\u00eda Facultad de Medicina, UBA, CABA"},{"name":"IBCN Eduardo de Robertis Facultad de Medicina, UBA\u2010CONICET, CABA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Betiana","family":"Comas","sequence":"additional","affiliation":[{"name":"Division of Neuropediatrics Italian Hospital of Buenos Aires, CABA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mart\u00edn","family":"Peralta","sequence":"additional","affiliation":[{"name":"Bah\u00eda Blanca Italian Hospital Bah\u00eda Blanca Buenos Aires"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillermo","family":"Agosta","sequence":"additional","affiliation":[{"name":"Neurolog\u00eda Infantil Hospital Italiano de Buenos Aires, CABA Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcelo","family":"Kauffman","sequence":"additional","affiliation":[{"name":"Consultorio y laboratorio de Neurogen\u00e9tica, Centro Universitario de Neurolog\u00eda \u201cJ.M. 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