Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature
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...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-05-01
|
| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/22/11/5609 |
| _version_ | 1797532681583460352 |
|---|---|
| author | Sonia Mayo Irene Gómez-Manjón Fco. Javier Fernández-Martínez Ana Camacho Francisco Martínez Julián Benito-León |
| author_facet | Sonia Mayo Irene Gómez-Manjón Fco. Javier Fernández-Martínez Ana Camacho Francisco Martínez Julián Benito-León |
| author_sort | Sonia Mayo |
| collection | DOAJ |
| description | 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 (<i>SYNGAP1</i>, <i>KIA02022</i>/<i>NEXMIF</i>, <i>RORB</i>, and <i>CHD2</i>). 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 (<i>SLC2A1</i>, <i>NAA10</i>, and <i>KCNB1</i>). Therefore, a possible relationship of these genes with the disease is discussed in this review. |
| first_indexed | 2024-03-10T11:03:45Z |
| format | Article |
| id | doaj.art-b3796a6b780e453f9ea1982125ee1b4a |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T11:03:45Z |
| publishDate | 2021-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-b3796a6b780e453f9ea1982125ee1b4a2023-11-21T21:20:54ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-05-012211560910.3390/ijms22115609Candidate Genes for Eyelid Myoclonia with Absences, Review of the LiteratureSonia Mayo0Irene Gómez-Manjón1Fco. Javier Fernández-Martínez2Ana Camacho3Francisco Martínez4Julián Benito-León5Genetics and Inheritance Research Group, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, SpainGenetics and Inheritance Research Group, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, SpainGenetics and Inheritance Research Group, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, SpainDepartment of Neurology, Division of Pediatric Neurology, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, 28041 Madrid, SpainTraslational Research in Genetics, Instituto de Investigación Sanitaria La Fe (IIS La Fe), 46026 Valencia, SpainDepartment of Neurology, Hospital Universitario 12 de Octubre, 28041 Madrid, SpainEyelid 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 (<i>SYNGAP1</i>, <i>KIA02022</i>/<i>NEXMIF</i>, <i>RORB</i>, and <i>CHD2</i>). 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 (<i>SLC2A1</i>, <i>NAA10</i>, and <i>KCNB1</i>). Therefore, a possible relationship of these genes with the disease is discussed in this review.https://www.mdpi.com/1422-0067/22/11/5609Jeavons syndromeeyelid myoclonia with absencescandidate genes<i>SYNGAP1</i><i>KIA02022</i><i>NEXMIF</i> |
| spellingShingle | Sonia Mayo Irene Gómez-Manjón Fco. Javier Fernández-Martínez Ana Camacho Francisco Martínez Julián Benito-León Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature International Journal of Molecular Sciences Jeavons syndrome eyelid myoclonia with absences candidate genes <i>SYNGAP1</i> <i>KIA02022</i> <i>NEXMIF</i> |
| title | Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature |
| title_full | Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature |
| title_fullStr | Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature |
| title_full_unstemmed | Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature |
| title_short | Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature |
| title_sort | candidate genes for eyelid myoclonia with absences review of the literature |
| topic | Jeavons syndrome eyelid myoclonia with absences candidate genes <i>SYNGAP1</i> <i>KIA02022</i> <i>NEXMIF</i> |
| url | https://www.mdpi.com/1422-0067/22/11/5609 |
| work_keys_str_mv | AT soniamayo candidategenesforeyelidmyocloniawithabsencesreviewoftheliterature AT irenegomezmanjon candidategenesforeyelidmyocloniawithabsencesreviewoftheliterature AT fcojavierfernandezmartinez candidategenesforeyelidmyocloniawithabsencesreviewoftheliterature AT anacamacho candidategenesforeyelidmyocloniawithabsencesreviewoftheliterature AT franciscomartinez candidategenesforeyelidmyocloniawithabsencesreviewoftheliterature AT julianbenitoleon candidategenesforeyelidmyocloniawithabsencesreviewoftheliterature |