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Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies

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dc.contributor.authorBeltrán, Álvaro
dc.contributor.authorAledo, Ángel
dc.contributor.authorMøller, Rikke
dc.contributor.authorPérez, Eduardo
dc.contributor.authorGarcía, Irene
dc.contributor.authorToledano, Rafael
dc.contributor.authorGil, Antonio
dc.date.accessioned2023-03-31T16:10:08Z
dc.date.available2023-03-31T16:10:08Z
dc.date.issued2022
dc.description.abstractThis review aims to provide an updated perspective of epilepsy genetics and precision medicine in adult patients, with special focus on developmental and epileptic encephalopathies (DEEs), covering relevant and controversial issues, such as defining candidates for genetic testing, which genetic tests to request and how to interpret them. A literature review was conducted, including findings in the discussion and recommendations. DEEs are wide and phenotypically heterogeneous electroclinical syndromes. They generally have a pediatric presentation, but patients frequently reach adulthood still undiagnosed. Identifying the etiology is essential, because there lies the key for precision medicine. Phenotypes modify according to age, and although deep phenotyping has allowed to outline certain entities, genotype-phenotype correlations are still poor, commonly leading to long-lasting diagnostic odysseys and ineffective therapies. Recent adult series show that the target patients to be identified for genetic testing are those with epilepsy and different risk factors. The clinician should take active part in the assessment of the pathogenicity of the variants detected, especially concerning variants of uncertain significance. An accurate diagnosis implies precision medicine, meaning genetic counseling, prognosis, possible future therapies, and a reduction of iatrogeny. Up to date, there are a few tens of gene mutations with additional concrete treatments, including those with restrictive/substitutive therapies, those with therapies modifying signaling pathways, and channelopathies, that are worth to be assessed in adults. Further research is needed regarding phenotyping of adult syndromes, early diagnosis, and the development of targeted therapies.
dc.description.versionVersión publicada
dc.identifier.citationBeltrán-Corbellini Á, Aledo-Serrano Á, Møller RS, Pérez-Palma E, García-Morales I, Toledano R, Gil-Nagel A. Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies. Front Neurol. 2022 Feb 17;13:777115. doi: 10.3389/fneur.2022.777115
dc.identifier.doihttps://doi.org/10.3389/fneur.2022.777115
dc.identifier.urihttps://repositorio.udd.cl/handle/11447/7221
dc.language.isoen
dc.subjectDiagnostic yield
dc.subjectGenetic testing
dc.subjectNeurogenetics
dc.subjectPrecision therapy
dc.subjectSeizure
dc.subjectPersonalized medicine
dc.subjectRare diseases
dc.subjectIntellectual disability
dc.titleEpilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies
dc.typeArticle
dcterms.accessRightsAcceso abierto
dcterms.sourceFrontiers in neurology
dspace.entity.typePublication

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