Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature

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dc.contributor.authorMayo, Sonia
dc.contributor.authorGómez Manjón, Irene
dc.contributor.authorFernández Martínez, Fco. Javier
dc.contributor.authorCamacho Salas, Ana
dc.contributor.authorMartínez, Francisco
dc.contributor.authorBenito León, Julián
dc.date.accessioned2023-06-17T08:25:13Z
dc.date.available2023-06-17T08:25:13Z
dc.date.issued2021-05-25
dc.description.abstractEyelid myoclonia with absences (EMA), also known as Jeavons syndrome (JS) is a childhood onset epileptic syndrome with manifestations involving a clinical triad of absence seizures with eyelid myoclonia (EM), photosensitivity (PS), and seizures or electroencephalogram (EEG) paroxysms induced by eye closure. Although a genetic contribution to this syndrome is likely and some genetic alterations have been defined in several cases, the genes responsible for have not been identified. In this review, patients diagnosed with EMA (or EMA-like phenotype) with a genetic diagnosis are summarized. Based on this, four genes could be associated to this syndrome (SYNGAP1, KIA02022/NEXMIF, RORB, and CHD2). Moreover, although there is not enough evidence yet to consider them as candidate for EMA, three more genes present also different alterations in some patients with clinical diagnosis of the disease (SLC2A1, NAA10, and KCNB1). Therefore, a possible relationship of these genes with the disease is discussed in this review.
dc.description.departmentDepto. de Medicina
dc.description.facultyFac. de Medicina
dc.description.refereedTRUE
dc.description.sponsorshipInstituto de Salud Carlos III (ISCIII)
dc.description.sponsorshipMutua Madrileña Foundation (FMM)
dc.description.statuspub
dc.eprint.idhttps://eprints.ucm.es/id/eprint/71666
dc.identifier.doi10.3390/ijms22115609
dc.identifier.issn1422-0067
dc.identifier.officialurlhttps://doi.org/10.3390/ijms22115609
dc.identifier.relatedurlhttps://www.mdpi.com/1422-0067/22/11/5609/htm
dc.identifier.urihttps://hdl.handle.net/20.500.14352/7050
dc.issue.number11
dc.journal.titleInternational Journal of Molecular Sciences
dc.language.isoeng
dc.page.initial5609
dc.publisherMPDI
dc.relation.projectIDCP20/00154
dc.relation.projectIDgrant number 2019/0144
dc.rightsAtribución 3.0 España
dc.rights.accessRightsopen access
dc.rights.urihttps://creativecommons.org/licenses/by/3.0/es/
dc.subject.keywordJeavons syndrome
dc.subject.keywordeyelid myoclonia with absences
dc.subject.keywordcandidate genes
dc.subject.keywordSYNGAP1
dc.subject.keywordKIA02022
dc.subject.keywordNEXMIF
dc.subject.keywordRORB
dc.subject.keywordCHD2
dc.subject.ucmGenética médica
dc.subject.ucmNeurociencias (Medicina)
dc.subject.unesco2410.07 Genética Humana
dc.subject.unesco2490 Neurociencias
dc.titleCandidate Genes for Eyelid Myoclonia with Absences, Review of the Literature
dc.typejournal article
dc.volume.number22
dspace.entity.typePublication
relation.isAuthorOfPublication7dfb41b4-de42-4eb5-9b91-bec38cdcaa8c
relation.isAuthorOfPublicationa1c7932c-7b3b-49b4-85f4-99cf7fbbb615
relation.isAuthorOfPublication.latestForDiscovery7dfb41b4-de42-4eb5-9b91-bec38cdcaa8c
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