Genetics of the Epilepsies
Year: 2016
Type: article
Abstract: Event Abstract Back to Event Genetics of the Epilepsies Massimo Pandolfo1* 1 Université Libre de Bruxelles, Hôpital Erasme Neurology, Belgium Genetic epilepsies are a complex group of disorders, with heterogeneous etiologies and clinicopathological features. The use of high-throughput approaches to sequence DNA and to detect CNVs is revealing a landscape of mutations in genetic epilepsies, affecting a variety of genes involved in neuronal excitability (e.g. ion channels), synaptic transmission, neuronal metabolism (e.g. GLUT1) or network development (e.g. the “toropathies”). A number of distinct genetic epilepsy syndromes may be defined on the basis of their electro-clinical characteristics, associated neurological, psychiatric or general physical features, imaging, neuropathology, and mode of inheritance. Phenotypes may include, in addition to epilepsy, variable degrees of intellectual disability, elements of autism spectrum disorders, other psychiatric disorders, and motor impairment. In some cases, these co-morbidities derive from uncontrolled seizure activity (epileptic encephalopathies), but in other cases they are direct, multifaceted consequences of global brain dysfunction. When phenotypes are accurately defined, the underlying genetics usually becomes less heterogeneous, more consistently pointing to specific pathogenic pathways. Conversely, however, the full phenotypic spectrum of mutations of a given gene may turn out to be surprisingly large and apparently heterogeneous, challenging any simplistic explanation of pathogenesis. Mutations may be de novo, or, when inherited, show reduced penetrance and variable expressivity. Understanding the genetics of these conditions will improve diagnosis, reveal pathogenic mechanisms, and eventually lead to better treatment. Résumé en Français: L’épilepsie existe sous plusieurs formes, ce qui rend son diagnostic complexe. L’analyse approfondie et détaillée du phénotype (ensemble des caractéristiques visibles d’une personne) c’est-à-dire de la partie visible du génotype, notre patrimoine génétique, permet de mieux appréhender son héritage génétique. C’est ainsi que l’analyse phénotypique peut révéler, en plus de l’épilepsie, des degrés variables de déficiencies intellectuelles, d’autisme, d’autres troubles psychiatriques et moteurs. Mais c’est par la recherche au niveau de la génétique des patients “épileptiques” que le diagnostic optimal poura être fait, cette recherche doit aussi permettre de découvrir les mécanismes cellulaires altérés et peut-être de nouveaux traitements. Samenvatting in het Nederlands: Er bestaan verschillende soorten epilepsie en types epileptische aanvallen, wat de diagnose complex maakt. Grondige en gedetailleerde analyse van het fenotype (alle zichtbare kenmerken van een persoon), dit is het zichtbare gedeelte van het genotype (ons genetisch materiaal), laat toe om onze genetische erfenis beter te begrijpen. Het is daarom dat fenotypische analyse, naast epilepsie, ook verschillende graden van intellectuele stoornissen, autisme en andere psychiatrische- en bewegingsstoornissen kan onthullen. Door bij patiënten met epilepsie onderzoek op niveau van de genetica te verrichten, kan een optimale diagnose gesteld worden. Dergelijk onderzoek moet ook toelaten om gewijzigde cellulaire mechanismen en misschien ook nieuwe behandelingen te ontdekken. Keywords: Epilepsy, phenotype, Genotype, comorbidities, Pathogenic Mechanism Conference: 6th Belgian Brain Congress, MONS, Belgium, 8 Oct - 8 Oct, 2016. Presentation Type: Oral Presentation Topic: Brain and brain diseases: between heredity and environment Citation: Pandolfo M (2016). Genetics of the Epilepsies. Conference Abstract: 6th Belgian Brain Congress. doi: 10.3389/conf.fnagi.2016.03.00039 Copyright: The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers. They are made available through the Frontiers publishing platform as a service to conference organizers and presenters. The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated. Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed. For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions. Received: 05 Jul 2016; Published Online: 05 Jul 2016. * Correspondence: Prof. Massimo Pandolfo, Université Libre de Bruxelles, Hôpital Erasme Neurology, Bruxelles, 1070, Belgium, [email protected] Login Required This action requires you to be registered with Frontiers and logged in. To register or login click here. Abstract Info Abstract The Authors in Frontiers Massimo Pandolfo Google Massimo Pandolfo Google Scholar Massimo Pandolfo PubMed Massimo Pandolfo Related Article in Frontiers Google Scholar PubMed Abstract Close Back to top Javascript is disabled. Please enable Javascript in your browser settings in order to see all the content on this page.
Source: Frontiers in Aging Neuroscience
Author: Pandolfo Massimo
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W2462585567