RT Journal Article
T1 Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature
A1 Mayo, Sonia
A1 Gómez Manjón, Irene
A1 Fernández Martínez, Fco. Javier
A1 Camacho Salas, Ana
A1 Martínez, Francisco
A1 Benito León, Julián
AB Eyelid 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.
PB MPDI
SN 1422-0067
YR 2021
FD 2021-05-25
LK https://hdl.handle.net/20.500.14352/7050
UL https://hdl.handle.net/20.500.14352/7050
LA eng
NO Instituto de Salud Carlos III (ISCIII)
NO Mutua Madrileña Foundation (FMM)
DS Docta Complutense
RD 20 ago 2024