A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype
Summary Purpose We describe the clinical, neurophysiologic, and genetic features of a new, large family with familial cortical myoclonic tremor and epilepsy (FCMTE). Methods Reliable clinical information was obtained on the 127 members. Thirty‐one collaborative individuals were assessed by a detaile...
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| Veröffentlicht in: | Epilepsia (Copenhagen) 2013-07, Vol.54 (7), p.1298-1306 |
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| creator | Licchetta, Laura Pippucci, Tommaso Bisulli, Francesca Cantalupo, Gaetano Magini, Pamela Alvisi, Lara Baldassari, Sara Martinelli, Paolo Naldi, Ilaria Vanni, Nicola Liguori, Rocco Seri, Marco Tinuper, Paolo |
| description | Summary
Purpose
We describe the clinical, neurophysiologic, and genetic features of a new, large family with familial cortical myoclonic tremor and epilepsy (FCMTE).
Methods
Reliable clinical information was obtained on the 127 members. Thirty‐one collaborative individuals were assessed by a detailed clinical interview and a complete neurologic examination. A polygraphic study was conducted in 15 patients, back‐averaging analysis and somatosensory evoked potentials with C‐reflex study in four. The genetic study investigated 30 subjects with microsatellite markers at three loci on chromosomes 8q (FCMTE1), 2p (FCMTE2), and 5p (FCMTE3).
Key Findings
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 years). Cortical myoclonic tremor (CMT) was associated with generalized seizures in 10 patients (62.5%). The mean age at onset of CMT and seizures was 28.1 and 33.8 years, respectively. Four patients (25%) reported a slow progression of CMT, with severe gait impairment in one. Psychiatric disorders of variable severity recurred in 37.5% of cases. Rhythmic bursts at 7–15 Hz 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 FCMTE2 locus on chromosome 2p11.1‐2q12.2 (OMIM 607876) and narrowed the critical interval to a 10.4 Mb segment. Haplotype analysis in the present family identified a founder haplotype identical to that previously observed in families from the same geographic area.
Significance
This study confirms evidence of a founder effect in Italian families and reduces the number of positional candidate genes in the FCMTE2 locus to 59, thereby contributing to future gene identification by Next Generation Sequencing approaches. |
| doi_str_mv | 10.1111/epi.12216 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_1412559085</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1381099340</sourcerecordid><originalsourceid>FETCH-LOGICAL-p3476-1b6d6f17e8e2c17d4f33de806563a51fb20ebd76f7bc33dcaece6dc0e7a9937d3</originalsourceid><addsrcrecordid>eNqFks9u1DAQxi0EokvhwAsgS1yK1LT-s7ETbtVqC5WK4FDOkWOPWVeOHRyHKrwVb4ibFg5cmMuMNL_5RqNvEHpNyRktcQ6jO6OMUfEEbWjNmopSIZ-iDSGUV23dkCP0YppuCSFSSP4cHTEuBCeN3KBfFzjEH-DxCMZ9SwD4zuUDtmpw3imPdUzZ6VIMS9Q-BqdxTjDEhFUwuCz2ME4LPrncfbrZv3uPd96FldcHlZTOkNxPlV0MpziBdQEGCBlHi_MB8DrEsI96nk5XQR2DdWlYJ-4phW2cg4GED2r0MS8jvETPrPITvHrMx-jr5f5m97G6_vzhandxXY18K0VFe2GEpRIaYJpKs7WcG2iIqAVXNbU9I9AbKazsdeloBRqE0QSkalsuDT9GJw-6Y4rfZ5hyN7hJg_cqQJynjm4pq-uWNPX_Ud5QUlS3pKBv_0Fv45xCOaRQkslaNC0v1JtHau4HMN2Y3KDS0v3xrQDnD8BdMWD526eku3-IrvjSrQ_R7b9crQX_DezHqWI</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1372756893</pqid></control><display><type>article</type><title>A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype</title><source>MEDLINE</source><source>Wiley Online Library Free Content</source><source>Access via Wiley Online Library</source><source>IngentaConnect Free/Open Access Journals</source><source>EZB-FREE-00999 freely available EZB journals</source><source>Alma/SFX Local Collection</source><creator>Licchetta, Laura ; Pippucci, Tommaso ; Bisulli, Francesca ; Cantalupo, Gaetano ; Magini, Pamela ; Alvisi, Lara ; Baldassari, Sara ; Martinelli, Paolo ; Naldi, Ilaria ; Vanni, Nicola ; Liguori, Rocco ; Seri, Marco ; Tinuper, Paolo</creator><creatorcontrib>Licchetta, Laura ; Pippucci, Tommaso ; Bisulli, Francesca ; Cantalupo, Gaetano ; Magini, Pamela ; Alvisi, Lara ; Baldassari, Sara ; Martinelli, Paolo ; Naldi, Ilaria ; Vanni, Nicola ; Liguori, Rocco ; Seri, Marco ; Tinuper, Paolo</creatorcontrib><description>Summary
Purpose
We describe the clinical, neurophysiologic, and genetic features of a new, large family with familial cortical myoclonic tremor and epilepsy (FCMTE).
Methods
Reliable clinical information was obtained on the 127 members. Thirty‐one collaborative individuals were assessed by a detailed clinical interview and a complete neurologic examination. A polygraphic study was conducted in 15 patients, back‐averaging analysis and somatosensory evoked potentials with C‐reflex study in four. The genetic study investigated 30 subjects with microsatellite markers at three loci on chromosomes 8q (FCMTE1), 2p (FCMTE2), and 5p (FCMTE3).
Key Findings
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 years). Cortical myoclonic tremor (CMT) was associated with generalized seizures in 10 patients (62.5%). The mean age at onset of CMT and seizures was 28.1 and 33.8 years, respectively. Four patients (25%) reported a slow progression of CMT, with severe gait impairment in one. Psychiatric disorders of variable severity recurred in 37.5% of cases. Rhythmic bursts at 7–15 Hz 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 FCMTE2 locus on chromosome 2p11.1‐2q12.2 (OMIM 607876) and narrowed the critical interval to a 10.4 Mb segment. Haplotype analysis in the present family identified a founder haplotype identical to that previously observed in families from the same geographic area.
Significance
This study confirms evidence of a founder effect in Italian families and reduces the number of positional candidate genes in the FCMTE2 locus to 59, thereby contributing to future gene identification by Next Generation Sequencing approaches.</description><identifier>ISSN: 0013-9580</identifier><identifier>EISSN: 1528-1167</identifier><identifier>DOI: 10.1111/epi.12216</identifier><identifier>PMID: 23663087</identifier><identifier>CODEN: EPILAK</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Adult ; Age ; Autosomal dominant myoclonic epilepsy ; Chromosome Mapping ; Chromosomes, Human, Pair 2 - genetics ; Chromosomes, Human, Pair 5 - genetics ; Cortical tremor ; Electroencephalography ; Electromyography ; Epilepsies, Myoclonic - complications ; Epilepsies, Myoclonic - genetics ; Evoked Potentials, Somatosensory - genetics ; Familial cortical myoclonic tremor and epilepsy ; Female ; Gait Ataxia - etiology ; Genetic Linkage ; Haplotypes - genetics ; Humans ; Male ; Middle Aged ; Pedigree ; Young Adult</subject><ispartof>Epilepsia (Copenhagen), 2013-07, Vol.54 (7), p.1298-1306</ispartof><rights>Wiley Periodicals, Inc. © 2013 International League Against Epilepsy</rights><rights>Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.</rights><rights>Copyright © 2013 International League Against Epilepsy</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fepi.12216$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fepi.12216$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,1433,27924,27925,45574,45575,46409,46833</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23663087$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Licchetta, Laura</creatorcontrib><creatorcontrib>Pippucci, Tommaso</creatorcontrib><creatorcontrib>Bisulli, Francesca</creatorcontrib><creatorcontrib>Cantalupo, Gaetano</creatorcontrib><creatorcontrib>Magini, Pamela</creatorcontrib><creatorcontrib>Alvisi, Lara</creatorcontrib><creatorcontrib>Baldassari, Sara</creatorcontrib><creatorcontrib>Martinelli, Paolo</creatorcontrib><creatorcontrib>Naldi, Ilaria</creatorcontrib><creatorcontrib>Vanni, Nicola</creatorcontrib><creatorcontrib>Liguori, Rocco</creatorcontrib><creatorcontrib>Seri, Marco</creatorcontrib><creatorcontrib>Tinuper, Paolo</creatorcontrib><title>A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype</title><title>Epilepsia (Copenhagen)</title><addtitle>Epilepsia</addtitle><description>Summary
Purpose
We describe the clinical, neurophysiologic, and genetic features of a new, large family with familial cortical myoclonic tremor and epilepsy (FCMTE).
Methods
Reliable clinical information was obtained on the 127 members. Thirty‐one collaborative individuals were assessed by a detailed clinical interview and a complete neurologic examination. A polygraphic study was conducted in 15 patients, back‐averaging analysis and somatosensory evoked potentials with C‐reflex study in four. The genetic study investigated 30 subjects with microsatellite markers at three loci on chromosomes 8q (FCMTE1), 2p (FCMTE2), and 5p (FCMTE3).
Key Findings
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 years). Cortical myoclonic tremor (CMT) was associated with generalized seizures in 10 patients (62.5%). The mean age at onset of CMT and seizures was 28.1 and 33.8 years, respectively. Four patients (25%) reported a slow progression of CMT, with severe gait impairment in one. Psychiatric disorders of variable severity recurred in 37.5% of cases. Rhythmic bursts at 7–15 Hz 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 FCMTE2 locus on chromosome 2p11.1‐2q12.2 (OMIM 607876) and narrowed the critical interval to a 10.4 Mb segment. Haplotype analysis in the present family identified a founder haplotype identical to that previously observed in families from the same geographic area.
Significance
This study confirms evidence of a founder effect in Italian families and reduces the number of positional candidate genes in the FCMTE2 locus to 59, thereby contributing to future gene identification by Next Generation Sequencing approaches.</description><subject>Adult</subject><subject>Age</subject><subject>Autosomal dominant myoclonic epilepsy</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 2 - genetics</subject><subject>Chromosomes, Human, Pair 5 - genetics</subject><subject>Cortical tremor</subject><subject>Electroencephalography</subject><subject>Electromyography</subject><subject>Epilepsies, Myoclonic - complications</subject><subject>Epilepsies, Myoclonic - genetics</subject><subject>Evoked Potentials, Somatosensory - genetics</subject><subject>Familial cortical myoclonic tremor and epilepsy</subject><subject>Female</subject><subject>Gait Ataxia - etiology</subject><subject>Genetic Linkage</subject><subject>Haplotypes - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Young Adult</subject><issn>0013-9580</issn><issn>1528-1167</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFks9u1DAQxi0EokvhwAsgS1yK1LT-s7ETbtVqC5WK4FDOkWOPWVeOHRyHKrwVb4ibFg5cmMuMNL_5RqNvEHpNyRktcQ6jO6OMUfEEbWjNmopSIZ-iDSGUV23dkCP0YppuCSFSSP4cHTEuBCeN3KBfFzjEH-DxCMZ9SwD4zuUDtmpw3imPdUzZ6VIMS9Q-BqdxTjDEhFUwuCz2ME4LPrncfbrZv3uPd96FldcHlZTOkNxPlV0MpziBdQEGCBlHi_MB8DrEsI96nk5XQR2DdWlYJ-4phW2cg4GED2r0MS8jvETPrPITvHrMx-jr5f5m97G6_vzhandxXY18K0VFe2GEpRIaYJpKs7WcG2iIqAVXNbU9I9AbKazsdeloBRqE0QSkalsuDT9GJw-6Y4rfZ5hyN7hJg_cqQJynjm4pq-uWNPX_Ud5QUlS3pKBv_0Fv45xCOaRQkslaNC0v1JtHau4HMN2Y3KDS0v3xrQDnD8BdMWD526eku3-IrvjSrQ_R7b9crQX_DezHqWI</recordid><startdate>201307</startdate><enddate>201307</enddate><creator>Licchetta, Laura</creator><creator>Pippucci, Tommaso</creator><creator>Bisulli, Francesca</creator><creator>Cantalupo, Gaetano</creator><creator>Magini, Pamela</creator><creator>Alvisi, Lara</creator><creator>Baldassari, Sara</creator><creator>Martinelli, Paolo</creator><creator>Naldi, Ilaria</creator><creator>Vanni, Nicola</creator><creator>Liguori, Rocco</creator><creator>Seri, Marco</creator><creator>Tinuper, Paolo</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7TK</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201307</creationdate><title>A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype</title><author>Licchetta, Laura ; Pippucci, Tommaso ; Bisulli, Francesca ; Cantalupo, Gaetano ; Magini, Pamela ; Alvisi, Lara ; Baldassari, Sara ; Martinelli, Paolo ; Naldi, Ilaria ; Vanni, Nicola ; Liguori, Rocco ; Seri, Marco ; Tinuper, Paolo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p3476-1b6d6f17e8e2c17d4f33de806563a51fb20ebd76f7bc33dcaece6dc0e7a9937d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adult</topic><topic>Age</topic><topic>Autosomal dominant myoclonic epilepsy</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 2 - genetics</topic><topic>Chromosomes, Human, Pair 5 - genetics</topic><topic>Cortical tremor</topic><topic>Electroencephalography</topic><topic>Electromyography</topic><topic>Epilepsies, Myoclonic - complications</topic><topic>Epilepsies, Myoclonic - genetics</topic><topic>Evoked Potentials, Somatosensory - genetics</topic><topic>Familial cortical myoclonic tremor and epilepsy</topic><topic>Female</topic><topic>Gait Ataxia - etiology</topic><topic>Genetic Linkage</topic><topic>Haplotypes - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Licchetta, Laura</creatorcontrib><creatorcontrib>Pippucci, Tommaso</creatorcontrib><creatorcontrib>Bisulli, Francesca</creatorcontrib><creatorcontrib>Cantalupo, Gaetano</creatorcontrib><creatorcontrib>Magini, Pamela</creatorcontrib><creatorcontrib>Alvisi, Lara</creatorcontrib><creatorcontrib>Baldassari, Sara</creatorcontrib><creatorcontrib>Martinelli, Paolo</creatorcontrib><creatorcontrib>Naldi, Ilaria</creatorcontrib><creatorcontrib>Vanni, Nicola</creatorcontrib><creatorcontrib>Liguori, Rocco</creatorcontrib><creatorcontrib>Seri, Marco</creatorcontrib><creatorcontrib>Tinuper, Paolo</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Epilepsia (Copenhagen)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Licchetta, Laura</au><au>Pippucci, Tommaso</au><au>Bisulli, Francesca</au><au>Cantalupo, Gaetano</au><au>Magini, Pamela</au><au>Alvisi, Lara</au><au>Baldassari, Sara</au><au>Martinelli, Paolo</au><au>Naldi, Ilaria</au><au>Vanni, Nicola</au><au>Liguori, Rocco</au><au>Seri, Marco</au><au>Tinuper, Paolo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype</atitle><jtitle>Epilepsia (Copenhagen)</jtitle><addtitle>Epilepsia</addtitle><date>2013-07</date><risdate>2013</risdate><volume>54</volume><issue>7</issue><spage>1298</spage><epage>1306</epage><pages>1298-1306</pages><issn>0013-9580</issn><eissn>1528-1167</eissn><coden>EPILAK</coden><abstract>Summary
Purpose
We describe the clinical, neurophysiologic, and genetic features of a new, large family with familial cortical myoclonic tremor and epilepsy (FCMTE).
Methods
Reliable clinical information was obtained on the 127 members. Thirty‐one collaborative individuals were assessed by a detailed clinical interview and a complete neurologic examination. A polygraphic study was conducted in 15 patients, back‐averaging analysis and somatosensory evoked potentials with C‐reflex study in four. The genetic study investigated 30 subjects with microsatellite markers at three loci on chromosomes 8q (FCMTE1), 2p (FCMTE2), and 5p (FCMTE3).
Key Findings
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 years). Cortical myoclonic tremor (CMT) was associated with generalized seizures in 10 patients (62.5%). The mean age at onset of CMT and seizures was 28.1 and 33.8 years, respectively. Four patients (25%) reported a slow progression of CMT, with severe gait impairment in one. Psychiatric disorders of variable severity recurred in 37.5% of cases. Rhythmic bursts at 7–15 Hz 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 FCMTE2 locus on chromosome 2p11.1‐2q12.2 (OMIM 607876) and narrowed the critical interval to a 10.4 Mb segment. Haplotype analysis in the present family identified a founder haplotype identical to that previously observed in families from the same geographic area.
Significance
This study confirms evidence of a founder effect in Italian families and reduces the number of positional candidate genes in the FCMTE2 locus to 59, thereby contributing to future gene identification by Next Generation Sequencing approaches.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>23663087</pmid><doi>10.1111/epi.12216</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Epilepsia (Copenhagen), 2013-07, Vol.54 (7), p.1298-1306 |
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| language | eng |
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| source | MEDLINE; Wiley Online Library Free Content; Access via Wiley Online Library; IngentaConnect Free/Open Access Journals; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Adult Age Autosomal dominant myoclonic epilepsy Chromosome Mapping Chromosomes, Human, Pair 2 - genetics Chromosomes, Human, Pair 5 - genetics Cortical tremor Electroencephalography Electromyography Epilepsies, Myoclonic - complications Epilepsies, Myoclonic - genetics Evoked Potentials, Somatosensory - genetics Familial cortical myoclonic tremor and epilepsy Female Gait Ataxia - etiology Genetic Linkage Haplotypes - genetics Humans Male Middle Aged Pedigree Young Adult |
| title | A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype |
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