Publication
Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene
| dc.contributor.author | Pinto, Eugenia | |
| dc.contributor.author | Freitas, Joel | |
| dc.contributor.author | Duarte, Ana Joana | |
| dc.contributor.author | Ribeiro, Isaura | |
| dc.contributor.author | Lima, JL | |
| dc.contributor.author | Chaves, Joao | |
| dc.contributor.author | Amaral, Olga | |
| dc.date.accessioned | 2012-02-13T17:32:22Z | |
| dc.date.available | 2012-02-13T17:32:22Z | |
| dc.date.issued | 2011-12 | |
| dc.description | AJD and DR are both recipients of FCT grants. | por |
| dc.description.abstract | Unverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence. This is one of the few cases of homozygosity for a non-classic mutation and adds to mutational heterogeneity of CSTB. | por |
| dc.description.sponsorship | This work was financially supported by National Funds through FCT - Fundação da Ciência e Tecnologia (MCTES – Portugal) under Project «PIC/IC/82822/2007». | por |
| dc.identifier.citation | Epilepsy Res. 2011 Dec 9. [Epub ahead of print] | por |
| dc.identifier.issn | 0920-1211 | |
| dc.identifier.other | ESSN: 1872-6844 | |
| dc.identifier.other | doi: 10.1016/j.eplepsyres.2011.11.004 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/538 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Elsevier | por |
| dc.relation.publisherversion | http://www.sciencedirect.com/science/article/pii/S0920121111003767 | por |
| dc.subject | Doenças Genéticas | por |
| dc.subject | Epilepsia | por |
| dc.subject | Epilepsy | por |
| dc.subject | Cistatina | por |
| dc.title | Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/5646-ICCMS/PIC%2FIC%2F82822%2F2007/PT | |
| oaire.citation.title | Epilepsy Research | por |
| oaire.fundingStream | 5646-ICCMS | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | article | por |
| relation.isProjectOfPublication | b8dae1fe-2a52-46cc-9d8c-951a08bfa219 | |
| relation.isProjectOfPublication.latestForDiscovery | b8dae1fe-2a52-46cc-9d8c-951a08bfa219 |