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

Fecha de publicación: Fecha Ahead of Print:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Mayo, S
  • Gomez-Manjon, I
  • Fernandez-Martinez, FJ
  • Camacho, A
  • Benito-Leon, J

Grupos

Abstract

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.

Datos de la publicación

ISSN/ISSNe:
1661-6596, 1661-6596

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES  MDPI AG

Tipo:
Review
Páginas:
-
Factor de Impacto:
1,176 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 11

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Keywords

  • Jeavons syndrome; eyelid myoclonia with absences; candidate genes; SYNGAP1; KIA02022; NEXMIF; RORB; CHD2

Financiación

Health Institute Carlos III (Spanish Ministry of Science and Innovation)
Mutua Madrilena Foundation

Proyectos asociados

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Investigador Principal: SANDRA MONFORT MEMBRADO

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Contrato Post FSE (Rio Hortega).

Investigador Principal: FRANCISCO MARTÍNEZ CASTELLANO

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