{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T09:33:10Z","timestamp":1787563990964,"version":"build-2736575974"},"reference-count":27,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,5,11]],"date-time":"2013-05-11T00:00:00Z","timestamp":1368230400000},"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":[[2013,7]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>\n                      We describe the clinical, neurophysiologic, and genetic features of a new, large family with familial cortical myoclonic tremor and epilepsy (\n                      <jats:styled-content style=\"fixed-case\">FCMTE<\/jats:styled-content>\n                      ).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Reliable clinical information was obtained on the 127 members. Thirty\u2010one collaborative individuals were assessed by a detailed clinical interview and a complete neurologic examination. A polygraphic study was conducted in 15 patients, back\u2010averaging analysis and somatosensory evoked potentials with\n                      <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>\n                      \u2010reflex study in four. The genetic study investigated 30 subjects with microsatellite markers at three loci on chromosomes 8q (\n                      <jats:styled-content style=\"fixed-case\">FCMTE<\/jats:styled-content>\n                      1), 2p (\n                      <jats:styled-content style=\"fixed-case\">FCMTE<\/jats:styled-content>\n                      2), and 5p (\n                      <jats:styled-content style=\"fixed-case\">FCMTE<\/jats:styled-content>\n                      3).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Key Findings<\/jats:title>\n                    <jats:p>\n                      The pedigree included 25 affected members (M\/F: 9\/16). We studied 16 of the 19 living affected members (M\/F: 5\/11; mean age 47.8\u00a0years). Cortical myoclonic tremor (\n                      <jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content>\n                      ) was associated with generalized seizures in 10 patients (62.5%). The mean age at onset of\n                      <jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content>\n                      and seizures was 28.1 and 33.8\u00a0years, respectively. Four patients (25%) reported a slow progression of\n                      <jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content>\n                      , with severe gait impairment in one. Psychiatric disorders of variable severity recurred in 37.5% of cases. Rhythmic bursts at 7\u201315\u00a0Hz were recorded in all 11 affected members tested. Additional neurophysiologic investigations disclosed a cortical origin of myoclonus in all patients tested. Generalized epileptiform discharges were recorded in 25% of cases, and a photoparoxysmal response in 31%. Genetic analysis established linkage to the\n                      <jats:styled-content style=\"fixed-case\">FCMTE<\/jats:styled-content>\n                      2 locus on chromosome 2p11.1\u20102q12.2 (\n                      <jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content>\n                      607876) and narrowed the critical interval to a 10.4\u00a0Mb segment. Haplotype analysis in the present family identified a founder haplotype identical to that previously observed in families from the same geographic area.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>\n                      This study confirms evidence of a founder effect in\n                      <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>\n                      talian families and reduces the number of positional candidate genes in the\n                      <jats:styled-content style=\"fixed-case\">FCMTE<\/jats:styled-content>\n                      2 locus to 59, thereby contributing to future gene identification by Next Generation Sequencing approaches.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/epi.12216","type":"journal-article","created":{"date-parts":[[2013,5,11]],"date-time":"2013-05-11T21:50:56Z","timestamp":1368309056000},"page":"1298-1306","source":"Crossref","is-referenced-by-count":23,"title":["A novel pedigree with familial cortical myoclonic tremor and epilepsy (\n                    <scp>FCMTE<\/scp>\n                    ): Clinical characterization, refinement of the\n                    <scp>FCMTE<\/scp>\n                    2 locus, and confirmation of a founder haplotype"],"prefix":"10.1111","volume":"54","author":[{"given":"Laura","family":"Licchetta","sequence":"first","affiliation":[{"name":"IRCCS Institute of Neurological Sciences of Bologna Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommaso","family":"Pippucci","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Department of Gynaecological, Obstetric and Paediatric Sciences Polyclinic Sant'Orsola\u2010Malpighi University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Bisulli","sequence":"additional","affiliation":[{"name":"IRCCS Institute of Neurological Sciences of Bologna Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetano","family":"Cantalupo","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit Department of Neuroscience University\u2010Hospital of Parma Parma Italy"},{"name":"Department of Life and Reproduction Sciences University of Verona Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Magini","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Department of Gynaecological, Obstetric and Paediatric Sciences Polyclinic Sant'Orsola\u2010Malpighi University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara","family":"Alvisi","sequence":"additional","affiliation":[{"name":"IRCCS Institute of Neurological Sciences of Bologna Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Baldassari","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Department of Gynaecological, Obstetric and Paediatric Sciences Polyclinic Sant'Orsola\u2010Malpighi University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Martinelli","sequence":"additional","affiliation":[{"name":"IRCCS Institute of Neurological Sciences of Bologna Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Naldi","sequence":"additional","affiliation":[{"name":"IRCCS Institute of Neurological Sciences of Bologna Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Vanni","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Institute G. Gaslini University of Genoa Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocco","family":"Liguori","sequence":"additional","affiliation":[{"name":"IRCCS Institute of Neurological Sciences of Bologna Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Seri","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Department of Gynaecological, Obstetric and Paediatric Sciences Polyclinic Sant'Orsola\u2010Malpighi University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Tinuper","sequence":"additional","affiliation":[{"name":"IRCCS Institute of Neurological Sciences of Bologna Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,5,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng786"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03017.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.584"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000055874.24000.4A"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2005.05.006"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181e396a8"},{"key":"e_1_2_8_8_1","unstructured":"EbiharaM OhbaN OhkuboY. 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