{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,29]],"date-time":"2025-11-29T15:53:03Z","timestamp":1764431583914},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,3,6]],"date-time":"2015-03-06T00:00:00Z","timestamp":1425600000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Genetic factors play a major role in the etiology of juvenile myoclonic epilepsy (<jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content>), a common form of idiopathic generalized epilepsy, but so far, genes related to <jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content> remain largely unknown. <jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content> shares electroclinical features with Unverricht\u2010Lundborg disease (progressive myoclonic epilepsy type 1; <jats:styled-content style=\"fixed-case\">EPM<\/jats:styled-content>1), a form of progressive myoclonus epilepsy characterized by myoclonus, epilepsy, and gradual neurologic deterioration. <jats:styled-content style=\"fixed-case\">EPM<\/jats:styled-content>1 is caused by mutations in the gene that codes for cystatin B (<jats:styled-content style=\"fixed-case\">CSTB<\/jats:styled-content>), an inhibitor of cysteine protease. In the present study, we wished to investigate the role of the <jats:italic><jats:styled-content style=\"fixed-case\">CSTB<\/jats:styled-content><\/jats:italic> gene in patients with <jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content>. Fifty\u2010seven unrelated patients (35 women; mean age \u00b1 standard deviation [SD], 24.1\u00a0\u00b1\u00a07.7; mean age \u00b1 SD at onset, 15.3\u00a0\u00b1\u00a02.4) with <jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content> were enrolled. Twenty\u2010three of 57 patients were the probands of families with <jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content>. The molecular diagnosis was carried out to identify the common dodecamer repeat expansion mutation or other disease\u2010causing mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">CSTB<\/jats:styled-content><\/jats:italic> gene. The molecular analysis did not depict mutations in any of the 57 patients with <jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content>. Our study did not support a role for the <jats:italic>CSTB<\/jats:italic> gene in patients with familial or sporadic <jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/epi.12944","type":"journal-article","created":{"date-parts":[[2015,3,6]],"date-time":"2015-03-06T01:51:54Z","timestamp":1425606714000},"source":"Crossref","is-referenced-by-count":7,"title":["No evidence of a role for cystatin <scp>B<\/scp> gene in juvenile myoclonic epilepsy"],"prefix":"10.1111","volume":"56","author":[{"given":"Laura","family":"Mumoli","sequence":"first","affiliation":[{"name":"Institute of Neurology University Magna Gr\u00e6cia Catanzaro Catanzaro Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Tarantino","sequence":"additional","affiliation":[{"name":"Institute of Molecular Bioimaging and Physiology Section\u00a0of Germaneto National Research Council Catanzaro Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Michelucci","sequence":"additional","affiliation":[{"name":"Division of Neurology IRCCS\u2014Institute of Neurological Sciences of Bologna Bellaria Hospital Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amedeo","family":"Bianchi","sequence":"additional","affiliation":[{"name":"Division of Neurology Hospital San Donato Arezzo Arezzo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Labate","sequence":"additional","affiliation":[{"name":"Institute of Neurology University Magna Gr\u00e6cia Catanzaro Catanzaro Italy"},{"name":"Institute of Molecular Bioimaging and Physiology Section\u00a0of Germaneto National Research Council Catanzaro Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Franceschetti","sequence":"additional","affiliation":[{"name":"Department of Neurophysiopathology and Epilepsy Centre IRCCS Foundation C. Besta Neurological Institute Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Marini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Neuroscience Department Children's Hospital A. Meyer\u2010University of Florence Firenze Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health G. Gaslini Institute University of Genoa Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Gagliardi","sequence":"additional","affiliation":[{"name":"Institute of Neurology University Magna Gr\u00e6cia Catanzaro Catanzaro Italy"},{"name":"Institute of Molecular Bioimaging and Physiology Section\u00a0of Germaneto National Research Council Catanzaro Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edoardo","family":"Ferlazzo","sequence":"additional","affiliation":[{"name":"Institute of Neurology University Magna Gr\u00e6cia Catanzaro Catanzaro Italy"},{"name":"Regional Epilepsy Center Hospital of Reggio Calabria Reggio Calabria Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vito","family":"Sofia","sequence":"additional","affiliation":[{"name":"Section\u00a0of Neurosciences Department GF Ingrassia University of Catania Catania Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loredana","family":"Pennese","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health G. Gaslini Institute University of Genoa Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grazia","family":"Annesi","sequence":"additional","affiliation":[{"name":"Institute of Molecular Bioimaging and Physiology Section\u00a0of Germaneto National Research Council Catanzaro Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Umberto","family":"Aguglia","sequence":"additional","affiliation":[{"name":"Institute of Neurology University Magna Gr\u00e6cia Catanzaro Catanzaro Italy"},{"name":"Regional Epilepsy Center Hospital of Reggio Calabria Reggio Calabria Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Neuroscience Department Children's Hospital A. Meyer\u2010University of Florence Firenze Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health G. Gaslini Institute University of Genoa Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Gambardella","sequence":"additional","affiliation":[{"name":"Institute of Neurology University Magna Gr\u00e6cia Catanzaro Catanzaro Italy"},{"name":"Institute of Molecular Bioimaging and Physiology Section\u00a0of Germaneto National Research Council Catanzaro Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"the Genetic Commission, Italian League Against Epilepsy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,3,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5256.1731"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201723"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01546.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/301798"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03718.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0013-9580.2004.43703.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1989.tb05316.x"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01173.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2005.9.328"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/377006"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1393"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/61.12.1085"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071576"},{"key":"e_1_2_7_15_1","unstructured":"AndermannE AmromD AndermannF et\u00a0al.Mild case of Unverricht\u2010Lundborg disease presenting as juvenile myoclonic epilepsy. 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