Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/203895
COMPARTIR / EXPORTAR:
logo share SHARE logo core CORE BASE
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE

Invitar a revisión por pares abierta
Campo DC Valor Lengua/Idioma
dc.contributor.authorVerdura, Edgardes_ES
dc.contributor.authorFont, Carmees_ES
dc.contributor.authorSchlüter, Agathaes_ES
dc.contributor.authorRuiz, Montserrates_ES
dc.contributor.authorFourcade, Stéphanees_ES
dc.contributor.authorCasasnovas, Carloses_ES
dc.contributor.authorCastellano, Antonioes_ES
dc.contributor.authorPujol, Auroraes_ES
dc.date.accessioned2020-03-13T12:33:01Z-
dc.date.available2020-03-13T12:33:01Z-
dc.date.issued2020-
dc.identifier.citationJournal of Medical Genetics 57: 132-137 (2020)es_ES
dc.identifier.issn0022-2593-
dc.identifier.urihttp://hdl.handle.net/10261/203895-
dc.description.abstract[Background] Since 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been described with mutations in KCNA1, encoding the voltage-gated K+ channel subunit Kv1.1. All of these mutations are either transmitted in an autosomal-dominant mode or found as de novo events.es_ES
dc.description.abstract[Methods] A patient presenting with a severe combination of dyskinesia and neonatal epileptic encephalopathy was sequenced by whole-exome sequencing (WES). A candidate variant was tested using cellular assays and patch-clamp recordings.es_ES
dc.description.abstract[Results] WES revealed a homozygous variant (p.Val368Leu) in KCNA1, involving a conserved residue in the pore domain, close to the selectivity signature sequence for K+ ions (TVGYG). Functional analysis showed that mutant protein alone failed to produce functional channels in homozygous state, while coexpression with wild-type produced no effects on K+ currents, similar to wild-type protein alone. Treatment with oxcarbazepine, a sodium channel blocker, proved effective in controlling seizures.es_ES
dc.description.abstract[Conclusion] This newly identified variant is the first to be reported to act in a recessive mode of inheritance in KCNA1. These findings serve as a cautionary tale for the diagnosis of channelopathies, in which an unreported phenotypic presentation or mode of inheritance for the variant of interest can hinder the identification of causative variants and adequate treatment choice.es_ES
dc.description.sponsorshipThis study was supported by the Centre for Biomedical Research on Rare Diseases (CIBERER) (ACCI14-759), the URDCat program (PERIS SLT002/16/00174), the Hesperia Foundation and the Secretariat for Universities and Research of the Ministry of Business and Knowledge of the Government of Catalonia (2017SGR1206) to AP and Instituto de Salud Carlos III (PI14/00581) (cofunded by European Regional Development Fund. ERDF, a way to build Europe) and la Marató de TV3 (345/C/2014) to CC and AP. EV was funded by a grant from the Ministerio de Economia, Industria y Competividad (Juan de la Cierva programme FJCI-2016-28811). SF was funded by the Instituto de Salud Carlos III (Miguel Servet programme CPII16/00016, cofunded by European Social Fund. ESF investing in your future) and MR was funded by CIBERER.es_ES
dc.language.isoenges_ES
dc.publisherBMJ Publishing Groupes_ES
dc.relationinfo:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/FJCI-2016-28811es_ES
dc.relation.isversionofPublisher's versiones_ES
dc.rightsopenAccesses_ES
dc.titleComplete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesiaes_ES
dc.typeartículoes_ES
dc.identifier.doi10.1136/jmedgenet-2019-106373-
dc.description.peerreviewedPeer reviewedes_ES
dc.relation.publisherversionhttp://dx.doi.org/10.1136/jmedgenet-2019-106373es_ES
dc.identifier.e-issn1468-6244-
dc.rights.licensehttp://creativecommons.org/licenses/by-nc/4.0/es_ES
dc.contributor.funderCentro de Investigación Biomédica en Red Enfermedades Raras (España)es_ES
dc.contributor.funderGeneralitat de Catalunyaes_ES
dc.contributor.funderHesperia Foundationes_ES
dc.contributor.funderInstituto de Salud Carlos IIIes_ES
dc.contributor.funderEuropean Commissiones_ES
dc.contributor.funderFundació La Marató de TV3es_ES
dc.contributor.funderMinisterio de Economía y Competitividad (España)es_ES
dc.relation.csices_ES
oprm.item.hasRevisionno ko 0 false*
dc.identifier.funderhttp://dx.doi.org/10.13039/501100002809es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100003329es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/100008666es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100000780es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100004587es_ES
dc.identifier.pmid31586945-
dc.type.coarhttp://purl.org/coar/resource_type/c_6501es_ES
item.openairetypeartículo-
item.cerifentitytypePublications-
item.languageiso639-1en-
item.grantfulltextopen-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextWith Fulltext-
Aparece en las colecciones: (IBIS) Artículos
Ficheros en este ítem:
Fichero Descripción Tamaño Formato
KCNA1_activity.pdf3,78 MBAdobe PDFVista previa
Visualizar/Abrir
Show simple item record

CORE Recommender

PubMed Central
Citations

22
checked on 03-feb-2024

SCOPUSTM   
Citations

26
checked on 23-mar-2024

WEB OF SCIENCETM
Citations

26
checked on 25-feb-2024

Page view(s)

168
checked on 29-mar-2024

Download(s)

162
checked on 29-mar-2024

Google ScholarTM

Check

Altmetric

Altmetric


Artículos relacionados:


Este item está licenciado bajo una Licencia Creative Commons Creative Commons