{"id":1085,"date":"2024-07-22T16:42:17","date_gmt":"2024-07-22T14:42:17","guid":{"rendered":"https:\/\/www.uni.lu\/lcsb-fr\/?page_id=1085"},"modified":"2026-07-24T10:23:09","modified_gmt":"2026-07-24T08:23:09","slug":"epilepsie-enfants","status":"publish","type":"page","link":"https:\/\/www.uni.lu\/lcsb-fr\/recherche\/recherche-animale\/exemples-projets-recherche\/epilepsie-enfants\/","title":{"rendered":"D\u00e9couvrir de nouveaux m\u00e9canismes et th\u00e9rapies pour soigner l\u2019\u00e9pilepsie chez les enfants"},"content":{"rendered":"<div class=\"section py-0 static\">\n<section class=\"py-0 wp-block-unilux-blocks-free-section section\"><div class=\"container xl:max-w-screen-xl\"><!-- SecondaryNavigationMirror --><div class=\"js-secondary-nav--sticky wp-block-unilux-blocks-secondary-navigation\" id=\"079cacee-a280-4f42-8b0f-7a37a67d3516\">\n    <nav id=\"secondary-navigation\" role=\"navigation\" aria-label=\"Secondary menu\" class=\"secondary-nav\">\n        <button 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class=\"has-text-align-left wp-block-unilux-blocks-heading\"        id=\"des-nouveaux-mecanismes-et-therapies-pour-soigner-lepilepsie-chez-les-enfants\"\n    >\nDes nouveaux m\u00e9canismes et th\u00e9rapies pour soigner l\u2019\u00e9pilepsie chez les enfants<\/h1>\n\n\n\n<p>L\u2019\u00e9pilepsie est un des troubles neurologiques les plus r\u00e9pandus au monde. Des perturbations de l\u2019activit\u00e9 normale des cellules nerveuses dans le cerveau provoquent des crises spontan\u00e9es. Si certaines formes d\u2019\u00e9pilepsie sont li\u00e9es \u00e0 d\u2019autres maladies, comme une infection du cerveau, un accident vasculaire c\u00e9r\u00e9bral ou un cancer, ou par des traumatismes physiques lors d\u2019accidents ou de chutes, la cause de la plupart des formes d\u2019\u00e9pilepsie qui surviennent dans la petite enfance n\u2019est pas encore clairement comprise. Des \u00e9tudes r\u00e9centes ont confirm\u00e9 une forte influence g\u00e9n\u00e9tique, mais il existe encore de nombreuses formes pour lesquelles aucun traitement ad\u00e9quat n\u2019est disponible.<\/p>\n\n\n\n<p>\u00ab Nous \u00e9tudions les origines g\u00e9n\u00e9tiques du syndrome de Dravet et des \u00e9pileptiques apparent\u00e9es. Les enfants atteints de ces maladies ont des crises qui ne r\u00e9pondent pas aux m\u00e9dicaments actuellement disponibles et pr\u00e9sentent de graves retards de d\u00e9veloppement \u00bb, explique le Dr Alexander Crawford, responsable du groupe Chemical Biology du Luxembourg Centre for Systems Biomedicine (LCSB) de l\u2019Universit\u00e9 du Luxembourg. Pour identifier l\u2019origine g\u00e9n\u00e9tique de ces maladies, Crawford collabore avec des cliniciens et des chercheurs en g\u00e9n\u00e9tique du LCSB et d\u2019autres instituts de recherche qui proc\u00e8dent au s\u00e9quen\u00e7age du g\u00e9nome des enfants atteints et de leurs parents sains. Ils cherchent \u00e0 identifier des diff\u00e9rences g\u00e9n\u00e9tiques entre les parents et l\u2019enfant susceptibles de r\u00e9v\u00e9ler de nouvelles mutations, dites <em>de novo<\/em>, dans des g\u00e8nes sp\u00e9cifiques qui pourraient \u00eatre \u00e0 l\u2019origine de ces maladies.<\/p>\n\n\n\n<p>Une fois que l\u2019\u00e9quipe a identifi\u00e9 une mutation potentiellement responsable de l\u2019\u00e9pilepsie, elle doit confirmer cette d\u00e9couverte pour s\u2019assurer que ce g\u00e8ne est bien \u00e0 l\u2019origine des crises. Pour ce faire, les chercheurs ont recours \u00e0 l\u2019exp\u00e9rimentation animale, en choisissant le poisson z\u00e8bre (<em>Danio rerio<\/em>). Ce dernier pr\u00e9sente un sch\u00e9ma de nage caract\u00e9ristique pendant les crises d\u2019\u00e9pilepsie et poss\u00e8de plusieurs autres avantages qui en font un mod\u00e8le appropri\u00e9 pour \u00e9tudier l\u2019\u00e9pilepsie. Le poisson-z\u00e8bre est un petit poisson tropical d\u2019eau douce originaire du sud-est de l\u2019Himalaya. C\u2019est un organisme mod\u00e8le vert\u00e9br\u00e9 important et largement utilis\u00e9 en recherche scientifique, en particulier dans les domaines de la biologie du d\u00e9veloppement, de la g\u00e9nomique fonctionnelle, de la mod\u00e9lisation des maladies et de la d\u00e9couverte de m\u00e9dicaments. Les exp\u00e9riences sont r\u00e9alis\u00e9es sur des embryons et des larves du poisson, qui sont microscopiques et optiquement translucides, ce qui permet de suivre leur d\u00e9veloppement au microscope en quelques heures.<\/p>\n\n\n\n<p>\u00ab Plus de 70 % des g\u00e8nes humains sont conserv\u00e9s chez le poisson-z\u00e8bre, ce qui nous permet d\u2019\u00e9tudier leur r\u00f4le dans le cerveau \u00bb, explique Crawford. Avec son \u00e9quipe, il introduit dans le poisson soit la m\u00eame mutation g\u00e9n\u00e9tique potentiellement susceptible de causer l\u2019\u00e9pilepsie chez les patients, soit de petites s\u00e9quences bloquantes sp\u00e9cifiques qui inactivent la fonction du g\u00e8ne. Pour ce faire, ils injectent du mat\u00e9riel g\u00e9n\u00e9tique modifi\u00e9 dans des \u0153ufs f\u00e9cond\u00e9s, ci qui modifie l\u2019activit\u00e9 du g\u00e8ne en question. Pendant une p\u00e9riode de un \u00e0 cinq jours, les chercheurs surveillent le comportement de nage des larves \u00e0 l\u2019aide de dispositifs de suivi automatis\u00e9s et enregistrent l\u2019activit\u00e9 c\u00e9r\u00e9brale via des techniques d\u2019\u00e9lectroenc\u00e9phalographie. Si les larves g\u00e9n\u00e9tiquement modifi\u00e9es pr\u00e9sentent un comportement de nage diff\u00e9rent et une activit\u00e9 c\u00e9r\u00e9brale accrue par rapport aux larves t\u00e9moins non trait\u00e9es, cela indique que la mutation des patients introduite chez les poissons provoque aussi l\u2019\u00e9pilepsie dans le mod\u00e8le du poisson-z\u00e8bre.<\/p>\n\n\n\n<p>Une fois qu\u2019une telle mutation g\u00e9n\u00e9tique est trouv\u00e9e, les chercheurs peuvent \u00e9tudier de pr\u00e8s les m\u00e9canismes par lesquels la mutation perturbe l\u2019activit\u00e9 normale des cellules nerveuses et chercher des m\u00e9dicaments qui pourraient traiter les crises. \u00c0 cette fin, Crawford et son \u00e9quipe exposent les larves de poisson g\u00e9n\u00e9tiquement modifi\u00e9es \u00e0 un large \u00e9ventail de mol\u00e9cules. Ce sont \u00e0 la fois des m\u00e9dicaments approuv\u00e9s, des candidats m\u00e9dicaments avec des donn\u00e9es relatives \u00e0 la s\u00e9curit\u00e9 humaine et des compos\u00e9s naturels isol\u00e9s \u00e0 partir de plantes m\u00e9dicinales. \u00c9tant donn\u00e9 que les larves sont de tr\u00e8s petite taille (3 \u00e0 5 mm de long) et peuvent absorber les compos\u00e9s directement \u00e0 travers leur peau, leur tractus gastro-intestinal et leurs branchies, elles sont plac\u00e9es individuellement dans des plaques multipuits, dans lesquelles les compos\u00e9s sont ajout\u00e9s directement dans l\u2019eau. Cette m\u00e9thode permet de tester simultan\u00e9ment de nombreux compos\u00e9s. Gr\u00e2ce aux syst\u00e8mes de suivi automatis\u00e9, les chercheurs peuvent identifier les compos\u00e9s qui inhibent le comportement \u00e9pileptique provoqu\u00e9 par la mutation g\u00e9n\u00e9tique.<\/p>\n\n\n\n<p>La plateforme aquatique du LCSB h\u00e9berge aujourd\u2019hui un nombre croissant de lign\u00e9es de poissons-z\u00e8bres g\u00e9n\u00e9tiquement distincts dans des aquariums sp\u00e9cialis\u00e9s. Un responsable de plateforme et une \u00e9quipe de chercheurs et de techniciens qualifi\u00e9s assurent les soins quotidiens et le bien-\u00eatre de ces poissons. La plateforme est \u00e9quip\u00e9e de technologies de pointe, notamment des robots d\u2019alimentation qui veillent \u00e0 ce que les poissons adultes soient nourris \u00e0 des intervalles et dans des conditions optimales.<\/p>\n<\/div><\/section>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":56,"featured_media":0,"parent":1078,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"featured_image_focal_point":[],"show_featured_caption":false,"ulux_newsletter_groups":"","uluxPostTitle":"","uluxPrePostTitle":"","_trash_the_other_posts":false,"_price":"","_stock":"","_tribe_ticket_header":"","_tribe_default_ticket_provider":"","_tribe_ticket_capacity":"0","_ticket_start_date":"","_ticket_end_date":"","_tribe_ticket_show_description":"","_tribe_ticket_show_not_going":false,"_tribe_ticket_use_global_stock":"","_tribe_ticket_global_stock_level":"","_global_stock_mode":"","_global_stock_cap":"","_tribe_rsvp_for_event":"","_tribe_ticket_going_count":"","_tribe_ticket_not_going_count":"","_tribe_tickets_list":"[]","_tribe_ticket_has_attendee_info_fields":false,"footnotes":""},"field-of-interest":[289],"organisation":[526,525],"authorship":[39,56],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v22.3 (Yoast SEO v22.3) - 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