{"id":3246,"date":"2022-10-31T18:28:36","date_gmt":"2022-10-31T18:28:36","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?page_id=3246"},"modified":"2026-08-24T05:24:35","modified_gmt":"2026-08-24T05:24:35","slug":"laboratorio","status":"publish","type":"page","link":"https:\/\/neuropediatoolkit.org\/fr\/laboratorio\/","title":{"rendered":"Laboratoire"},"content":{"rendered":"<h2 class=\"wp-block-heading\">Comment construire un laboratoire de neurop\u00e9diatrie.<\/h2>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-86043963\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Par o\u00f9 commencer ? Des outils qui vous facilitent la vie.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>IA et neurologie p\u00e9diatrique. <\/li>\n\n\n\n<li>Gestion des Dockers et des conteneurs.<\/li>\n\n\n\n<li>WordPress.<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Connaissez-vous vos techniques de diagnostic ?<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>Pr\u00e9diction des r\u00e9sultats de s\u00e9quen\u00e7age massif. Pr\u00e9dWES.<\/li>\n\n\n\n<li>Analyse de la couverture g\u00e9nomique. <\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Bases de donn\u00e9es publiques utilisables.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n\n\n<form role=\"search\" method=\"get\" action=\"https:\/\/neuropediatoolkit.org\/fr\/\" class=\"wp-block-search__button-inside wp-block-search__icon-button wp-block-search\" data-trp-original-action=\"https:\/\/neuropediatoolkit.org\/fr\/\" ><label class=\"wp-block-search__label screen-reader-text\" for=\"wp-block-search__input-1\" >Rechercher<\/label><div class=\"wp-block-search__inside-wrapper\" ><input class=\"wp-block-search__input\" id=\"wp-block-search__input-1\" placeholder=\"\" value=\"\" type=\"search\" name=\"s\" required \/><button aria-label=\"Rechercher\" class=\"wp-block-search__button has-icon wp-element-button\" type=\"submit\" ><svg class=\"search-icon\" viewbox=\"0 0 24 24\" width=\"24\" height=\"24\">\n\t\t\t\t\t<path d=\"M13 5c-3.3 0-6 2.7-6 6 0 1.4.5 2.7 1.3 3.7l-3.8 3.8 1.1 1.1 3.8-3.8c1 .8 2.3 1.3 3.7 1.3 3.3 0 6-2.7 6-6S16.3 5 13 5zm0 10.5c-2.5 0-4.5-2-4.5-4.5s2-4.5 4.5-4.5 4.5 2 4.5 4.5-2 4.5-4.5 4.5z\"><\/path>\n\t\t\t\t<\/svg><\/button><\/div><input type=\"hidden\" name=\"trp-form-language\" value=\"fr\"\/><\/form>\n\n\n<div class=\"wp-block-media-text alignwide has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<p class=\"wp-block-paragraph\">Nous pouvons analyser les m\u00e9canismes des maladies neurop\u00e9diatriques \u00e0 diff\u00e9rents niveaux biologiques. Certaines maladies sont typiquement impliqu\u00e9es dans l\u2019une d\u2019entre elles, tandis que d\u2019autres participent de mani\u00e8re r\u00e9currente \u00e0 plusieurs. Cependant, les regrouper en groupes fonctionnels est utile pour analyser leurs \u00e9l\u00e9ments communs et favoriser leur compr\u00e9hension d\u2019un point de vue biologique.  <\/p>\n<\/div><figure class=\"wp-block-media-text__media\"><img fetchpriority=\"high\" decoding=\"async\" width=\"717\" height=\"1024\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-61-717x1024.png\" alt=\"\" class=\"wp-image-3863 size-full\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-717x1024.png 717w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-210x300.png 210w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-768x1097.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-1075x1536.png 1075w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-1434x2048.png 1434w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-8x12.png 8w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-1568x2240.png 1568w\" sizes=\"(max-width: 717px) 100vw, 717px\" \/><\/figure><\/div>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-3a855b8f\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Niveau de pointe.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-0234d2db\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Sciences physiques.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Biophysique. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Biostatistique.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Niveau nano.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3f2a0790\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Genomics\">G\u00e9nomique<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Il existe des diff\u00e9rences entre la g\u00e9nomique et la g\u00e9n\u00e9tique. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>La g\u00e9n\u00e9tique est l'\u00e9tude de la fonction et de la composition des g\u00e8nes, ainsi que de leur h\u00e9r\u00e9dit\u00e9 et des maladies qu'ils produisent. <\/li>\n\n\n\n<li>La g\u00e9nomique est l'\u00e9tude de l'ensemble complet des informations g\u00e9n\u00e9tiques d'un organisme, y compris les r\u00e9gions non codantes. <\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Le g\u00e9nome d\u2019un individu est conditionn\u00e9 en chromosomes, constitu\u00e9s de chromatine, elle-m\u00eame constitu\u00e9e de brins d\u2019ADN regroup\u00e9s autour d\u2019histones. Les brins d'ADN sont form\u00e9s en combinant des paires de bases.  <\/p>\n\n\n\n<figure class=\"wp-block-image size-large is-resized\"><img decoding=\"async\" width=\"856\" height=\"1024\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-856x1024.png\" alt=\"\" class=\"wp-image-3341\" style=\"width:330px;height:395px\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-856x1024.png 856w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-251x300.png 251w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-768x919.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-10x12.png 10w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1.png 1284w\" sizes=\"(max-width: 856px) 100vw, 856px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Nous pouvons classer les diff\u00e9rentes maladies g\u00e9nomiques en :<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/fr\/cariotipo-en-la-era-del-acgh\/\">Aneuplo\u00efdies et autres erreurs cytog\u00e9n\u00e9tiques<\/a>.<\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/fr\/sindromes-de-microdeleccion-y-microduplicacion\/\">R\u00e9arrangements chromosomiques et CNV.<\/a><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Et les maladies g\u00e9n\u00e9tiques dans :<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/fr\/notable-mutations%ef%bf%bc\/\">Mutations ponctuelles et maladies monog\u00e9n\u00e9tiques.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/fr\/str-short-tandem-repeat-disorders\/\">Mutations dynamiques et STR.<\/a><\/li>\n\n\n\n<li>Troubles de la r\u00e9paration de l'ADN. <\/li>\n\n\n\n<li>T\u00e9lom\u00e8res.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Il existe de multiples ressources pour consulter les maladies g\u00e9nomiques et g\u00e9n\u00e9tiques, telles que : <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/fr\/decipher-genome-browser\/\">D\u00e9chiffrer le navigateur du g\u00e9nome. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/fr\/gene-reviews\/\">Examens g\u00e9n\u00e9tiques<\/a>.<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Epigenoma\">\u00c9pig\u00e9nomique<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metilaci%C3%B3n_del_ADN\">M\u00e9thylation.<\/a> <\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK535150\/?report=reader\">\u00c9pig\u00e9n\u00e9tique et maladies caus\u00e9es par des erreurs d\u2019empreinte<\/a>.<\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/fr\/cromatinopatias\/\">Chromatinopathies.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK550348\/\">M\u00e9thylome et empreinte \u00e9pig\u00e9n\u00e9tique. <\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"631\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/01\/image-1-1024x631.png\" alt=\"\" class=\"wp-image-4346\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-1024x631.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-300x185.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-768x474.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-1536x947.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-2048x1263.png 2048w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-18x12.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-1568x967.png 1568w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Transcriptomics_technologies\">Transcriptomique<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"754\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-47-1024x754.png\" alt=\"\" class=\"wp-image-3760\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47-1024x754.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47-300x221.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47-768x566.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47-16x12.png 16w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47.png 1036w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-e160fa6b22288c6f1f95bb1b25656c00\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:CGURW97Q}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">Vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">d\u00e9faut<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n        <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n        <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Il existe 2 processus li\u00e9s \u00e0 l'ARN qui permettent le passage de l'information g\u00e9n\u00e9tique vers la production de prot\u00e9ines. Ce sont les <a href=\"https:\/\/en.wikipedia.org\/wiki\/Transcription_(biology)\">transcription <\/a>et le <a href=\"https:\/\/es.wikipedia.org\/wiki\/Traducci%C3%B3n_(gen%C3%A9tica)\">traduction<\/a>, parmi lesquels il existe divers processus dans lesquels l'ARNm m\u00fbrit \u00e0 partir d'un pr\u00e9-ARNm, appel\u00e9s <a href=\"https:\/\/en.wikipedia.org\/wiki\/Post-transcriptional_modification\">m\u00e9canismes de modification post-transcription<\/a>. Plusieurs mol\u00e9cules \u00e0 base d'ARN sont impliqu\u00e9es, comme l'ARNt et le snRNA (ribonucl\u00e9oprot\u00e9ines). Il existe \u00e9galement des m\u00e9canismes de modification<a href=\"https:\/\/es.wikipedia.org\/wiki\/Modificaci%C3%B3n_postraduccional\"> post-traduction<\/a> de prot\u00e9ines. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Transcription. \n<ul class=\"wp-block-list\">\n<li>Transcriptopathies. <\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Post-transcription.\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/fr\/spliceopathies\/\">\u00c9pissageopathies.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/thebiologynotes.com\/alternative-splicing\/\">\u00c9pissage alternatif.<\/a> <\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Traduction.\n<ul class=\"wp-block-list\">\n<li>Ribosomalopathies. <\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Post-traduction. <\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.nature.com\/articles\/nrg3074\">ARN non codant.<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"http:\/\/neuropediatoolkit.org\/fr\/oligonucleotidos-antisentido\/\">Oligonucl\u00e9otides antisens. <\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Prote%C3%B3mica\">Prot\u00e9omique<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Le <a href=\"https:\/\/en.wikipedia.org\/wiki\/Proteinopathy\">prot\u00e9inopathies<\/a> Ce sont toutes ces maladies g\u00e9n\u00e9tiques qui affectent les r\u00e9gions codantes de l\u2019ADN et affectent la conformation des cha\u00eenes d\u2019acides amin\u00e9s. Les maladies caus\u00e9es par des ARN non codants ou celles provoqu\u00e9es par des mutations affectant la s\u00e9quence d'acides amin\u00e9s, par exemple, sont exclues de ce concept. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Cependant, dans ce chapitre, nous allons regrouper les maladies en fonction du type de prot\u00e9ine qu\u2019elles affectent. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Il existe 3 groupes principaux de prot\u00e9ines. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Prot\u00e9ines fonctionnelles (enzymes). Son alt\u00e9ration donne lieu \u00e0 des maladies m\u00e9taboliques (m\u00e9tabolopathies). Ils ont g\u00e9n\u00e9ralement une transmission autosomique r\u00e9cessive <a href=\"http:\/\/neuropediatoolkit.org\/fr\/enfermedades-metabolicas-ligadas-al-x\/\">(mais pas tous)<\/a>. <\/li>\n\n\n\n<li>Prot\u00e9ines structurelles. Son alt\u00e9ration donne lieu \u00e0 des changements physiques microscopiques (au niveau des cellules et des tissus) ou macroscopiques (ph\u00e9notypiques). Ils ont g\u00e9n\u00e9ralement une transmission autosomique dominante. <\/li>\n\n\n\n<li>Signalisation cellulaire et liaison du ligand. Ce sont des prot\u00e9ines structurales dot\u00e9es d\u2019une fonction sp\u00e9cifique, connect\u00e9es aux voies de communication extracellulaires et intracellulaires. Il existe des r\u00e9cepteurs, des canaux et des transporteurs, ainsi que des neurotransmetteurs, des hormones et des cascades de signalisation. Ils sont particuli\u00e8rement importants dans le syst\u00e8me nerveux central, qui poss\u00e8de un syst\u00e8me de communication intercellulaire sp\u00e9cifique (synapse). <\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Sur le Web <a href=\"https:\/\/www.proteinatlas.org\/\">prot\u00e9atlas<\/a> L'expression histologique de diff\u00e9rentes prot\u00e9ines peut \u00eatre revue en fonction du tissu \u00e0 \u00e9tudier. <\/p>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-4b6a0c3d\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikibooks.org\/wiki\/Enfermedades_metab%C3%B3licas_producidas_por_enzimas_defectuosas\">Enzymopathies.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">La plupart des maladies m\u00e9taboliques h\u00e9r\u00e9ditaires (erreurs inn\u00e9es du m\u00e9tabolisme) sont dues \u00e0 la mutation d'une enzyme qui produit un blocage m\u00e9tabolique dans une voie m\u00e9tabolique sans alternative (bien que d'autres soient dues \u00e0 des transportopathies, par exemple). Voir ci-dessous sur le m\u00e9tabolome. <\/p>\n\n\n\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/7qgxdfs9r7-u\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/fr\/sinaptopatias\/\">Synaptopathies.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"601\" height=\"525\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-9.png\" alt=\"\" class=\"wp-image-3680\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9.png 601w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-300x262.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-14x12.png 14w\" sizes=\"(max-width: 601px) 100vw, 601px\" \/><figcaption class=\"wp-element-caption\">Multiples m\u00e9canismes d\u2019alt\u00e9ration de la fonction des neurotransmetteurs.<\/figcaption><\/figure>\n\n\n<p class=\"wp-block-paragraph\">Au-del\u00e0 du <a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">maladies classiques des neurotransmetteurs<\/a>, ces derni\u00e8res ann\u00e9es, d'autres maladies complexes li\u00e9es \u00e0 la machinerie sp\u00e9cifique de la synapse ont \u00e9t\u00e9 d\u00e9couvertes, et elles peuvent \u00eatre class\u00e9es en fonction de leur emplacement dans cette structure en\u00a0: <\/p>\n\n\n<ul class=\"wp-block-list\">\n\n<li>Pr\u00e9synaptique. Ce sont ces maladies qui surviennent en raison d'une perturbation de la synth\u00e8se, du transport ou de la fusion de la v\u00e9sicule synaptique. Un exemple est l'enc\u00e9phalopathie secondaire \u00e0 une mutation du <a href=\"https:\/\/stxbp1.es\/\">STXBP1. <\/a><\/li>\n\n<\/ul>\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"565\" height=\"458\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-44.png\" alt=\"\" class=\"wp-image-3294\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44.png 565w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-300x243.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-15x12.png 15w\" sizes=\"(max-width: 565px) 100vw, 565px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-ca6eb53c1636ca79e87705dd34c35082\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:63WK5ADH}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">Vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">d\u00e9faut<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n        <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n        <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n<ul class=\"wp-block-list\">\n\n<li>Postsynaptique. Ce sont ces maladies li\u00e9es aux r\u00e9cepteurs dendritiques. Un exemple sont les <a href=\"https:\/\/grin-portal.broadinstitute.org\/\">GRINpathies (R\u00e9cepteur du Glutamate, Inotrope, NMDA, sous-unit\u00e9 1). <\/a><\/li>\n\n<\/ul>\n\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Channelopathy\">Canalopathies.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\"><a href=\"http:\/\/epilepsygenetics.net\/\">Au-del\u00e0 de TheIonChannel<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"579\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-46.png\" alt=\"\" class=\"wp-image-3322\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-300x254.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/scn-portal.broadinstitute.org\/\">Portail SCN. <\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Voies mol\u00e9culaires intracellulaires.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">mTORopathies.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"765\" height=\"522\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-42.png\" alt=\"\" class=\"wp-image-3285\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42.png 765w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-18x12.png 18w\" sizes=\"(max-width: 765px) 100vw, 765px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/rasopathiesnet.org\/\">RASopathies. <\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"417\" height=\"476\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-43.png\" alt=\"\" class=\"wp-image-3287\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43.png 417w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-263x300.png 263w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-11x12.png 11w\" sizes=\"(max-width: 417px) 100vw, 417px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Transportopathie<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Le <a href=\"http:\/\/neuropediatoolkit.org\/fr\/transportopatias\/\">transportopathies<\/a> sont toutes ces maladies d\u00e9riv\u00e9es du dysfonctionnement des prot\u00e9ines de transport membranaire, un ensemble de structures en forme de canaux qui permettent le passage \u00e0 travers les membranes \u00e0 la fois gr\u00e2ce \u00e0 l'utilisation de <a href=\"https:\/\/en.wikipedia.org\/wiki\/Active_transport\">transports actifs<\/a> comme lui <a href=\"https:\/\/en.wikipedia.org\/wiki\/Passive_transport\">transport passif<\/a> en faveur du gradient, permettant et r\u00e9gulant l'entr\u00e9e et la sortie de diff\u00e9rents compos\u00e9s dans la cellule et les organites cellulaires. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"432\" height=\"299\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-8.png\" alt=\"\" class=\"wp-image-3604\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8.png 432w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-300x208.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-18x12.png 18w\" sizes=\"(max-width: 432px) 100vw, 432px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">On peut \u00e9galement les classer en fonction des substances transport\u00e9es, en <a href=\"https:\/\/en.wikipedia.org\/wiki\/Uniporter\">uniporteur <\/a>(1 seule substance) ou <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cotransporter\">cotransporteur<\/a> (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Symporter\">symporteur<\/a>, 2 substances dans la m\u00eame direction ; <a href=\"https:\/\/en.wikipedia.org\/wiki\/Antiporter\">antiporteur<\/a>, 2 substances en sens oppos\u00e9s). <\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png\" alt=\"\" class=\"wp-image-3603\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-300x169.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-768x432.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-18x10.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Il existe plusieurs ressources d'information sur les transporteurs membranaires, telles que <a href=\"http:\/\/www.ittsociety.org\/itts-events\/2020\/6\/14\/grc-membrane-transport-proteins\">site Internet de la soci\u00e9t\u00e9 internationale pour les prot\u00e9ines de transport membranaire<\/a>, ou le site Web Bioparadigms, o\u00f9 un <a href=\"https:\/\/www.bioparadigms.org\/slc\/intro.htm\">enregistrement de classification de toutes les prot\u00e9ines SLC <\/a>d\u00e9couverts \u00e0 ce jour et leur fonction, ainsi que l'initiative <a href=\"https:\/\/www.nccr-transcure.ch\/\">TransCure<\/a>, pour la recherche sur les traitements.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metabol%C3%B3mica\">M\u00e9tabolomique<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Il existe de multiples ressources pour l\u2019\u00e9tude des maladies m\u00e9taboliques, la plus utile est la <a href=\"http:\/\/neuropediatoolkit.org\/fr\/vademecum-metabolicum\/\">Vademecum m\u00e9tabolique<\/a>. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Les sites Internet de <a href=\"http:\/\/biochemical-pathways.com\/#\/map\/1\">voies biochimiques<\/a>, o\u00f9 un diagramme avec toutes les voies m\u00e9taboliques pertinentes est disponible, ou sur le site Internet du <a href=\"https:\/\/www.genome.jp\/kegg\/\">KEGG<\/a> (Encyclop\u00e9die de Kyoto sur les g\u00e8nes et les g\u00e9nomes), o\u00f9 des informations tabul\u00e9es sont disponibles sur les m\u00e9tabolites, les enzymes et les g\u00e8nes codants ainsi que des diagrammes de toutes les voies m\u00e9taboliques, ou le site Web <a href=\"https:\/\/humancyc.org\/\">HumanCyC<\/a>, une encyclop\u00e9die du m\u00e9tabolisme et des g\u00e8nes humains. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/0\">Aminoacidopathies et maladies peptidiques. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/1\">Maladies du m\u00e9tabolisme des glucides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/2\">Maladies du m\u00e9tabolisme des acides gras, des corps carnitine et c\u00e9tonique.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/7\">Lipidopathie<\/a>. <\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/4\">Purines, pyrimidines et nucl\u00e9otides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/3\">M\u00e9tabolisme \u00e9nerg\u00e9tique. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/fr\/cdg-roadmap\/\">Troubles de la glycosylation.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">M\u00e9tabolisme des neurotransmetteurs.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/12\">M\u00e9tabolisme des vitamines et des cofacteurs. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/13\">M\u00e9tabolisme des oligo-\u00e9l\u00e9ments et des m\u00e9taux.<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Niveau micro.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"900\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-63.png\" alt=\"\" class=\"wp-image-5414\" style=\"width:618px;height:542px\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-300x264.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-768x675.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-14x12.png 14w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-47afee26\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ciliopathies.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"312\" height=\"215\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-45.png\" alt=\"\" class=\"wp-image-3310\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45.png 312w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-300x207.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-18x12.png 18w\" sizes=\"(max-width: 312px) 100vw, 312px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-c6ee93bf47d087c46ed3e1758c49c62d\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:UA2FVAU9}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">Vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">d\u00e9faut<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n        <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n        <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"592\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-6.png\" alt=\"\" class=\"wp-image-3355\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-300x259.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.ciliopathyalliance.org\/\">https:\/\/www.ciliopathyalliance.org\/<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cytosquelette<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Tubulinopathies<\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Golgiopathies<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"930\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png\" alt=\"\" class=\"wp-image-3366\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-300x272.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-768x698.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-13x12.png 13w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9.png 1418w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Maladies mitochondriales<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/n0kfrrzccdf8\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome\">https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome<\/a><\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-umdf wp-block-embed-umdf\"><div class=\"wp-block-embed__wrapper\">\n<blockquote class=\"wp-embedded-content\" data-secret=\"etrHdrTidF\"><a href=\"https:\/\/umdf.org\/\">Maison<\/a><\/blockquote><iframe class=\"wp-embedded-content\" sandbox=\"allow-scripts\" security=\"restricted\" style=\"position: absolute; visibility: hidden;\" title=\"\u00ab\u00a0Accueil\u00a0\u00bb \u2013 UMDF\" src=\"https:\/\/umdf.org\/embed\/#?secret=TB4SS6zllm#?secret=etrHdrTidF\" data-secret=\"etrHdrTidF\" width=\"600\" height=\"338\" frameborder=\"0\" marginwidth=\"0\" marginheight=\"0\" scrolling=\"no\"><\/iframe>\n<\/div><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/fr\/facies-tosca\/\">Maladies lysosomales<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/fr\/enfermedades-peroxisomales\/\">Maladies peroxysomales<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Ribosomopathy\">Ribosomalopathies<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\"><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Niveau macro. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-53b6b186\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ph\u00e9notype macroscopique. Neuroanatomie.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.clinicalneuroanatomyseminars.com\">https:\/\/www.clinicalneuroanatomyseminars.com<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"http:\/\/braininfo.rprc.washington.edu\/Default.aspx\">http:\/\/braininfo.rprc.washington.edu\/Default.aspx<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.neuroanatomy.ca\/\">https:\/\/www.neuroanatomy.ca\/<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"http:\/\/www.atlasbrain.com\/enx\/atlas_main.html\">http:\/\/www.atlasbrain.com\/enx\/atlas_main.html<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"http:\/\/neuropediatoolkit.org\/fr\/jerarquia-del-control-del-sistema-motor\/\">Hi\u00e9rarchie du contr\u00f4le du syst\u00e8me moteur. <\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Polioenc\u00e9phalopathies.<\/li>\n\n\n\n<li>Leucoenc\u00e9phalopathies. <\/li>\n\n\n\n<li>Troubles des noyaux gris centraux.<\/li>\n\n\n\n<li>C\u00e9r\u00e9bellopathies. <\/li>\n\n\n\n<li>My\u00e9lopathies. <\/li>\n\n\n\n<li>Maladies neuromusculaires.<ul><li>Polyneuropathies.<\/li><li>Myopathies.<\/li><\/ul>\n<ul class=\"wp-block-list\">\n<li>Maladies de la jonction neuromusculaire. <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ph\u00e9notype de d\u00e9veloppement (morphologique). <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"751\" height=\"437\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-64.png\" alt=\"\" class=\"wp-image-5417\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64.png 751w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-300x175.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-18x10.png 18w\" sizes=\"(max-width: 751px) 100vw, 751px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Embryologie.  <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html\">http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html\">https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/atlas.eshre.eu\/\">https:\/\/atlas.eshre.eu\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ehd.org\/virtual-human-embryo\/\">https:\/\/www.ehd.org\/virtual-human-embryo\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.3dembryoatlas.com\/\">https:\/\/www.3dembryoatlas.com\/<\/a><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"http:\/\/neuropediatoolkit.org\/fr\/neuroembriopatias-malformaciones-del-snc\/\">Pathologies neuroembryologiques. <\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"http:\/\/neuropediatoolkit.org\/fr\/embriologia-y-neurodesarrollo\/\">Neurocristopathies.<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ph\u00e9notype fonctionnel neurologique. Neurosciences.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3cffcf5a\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ph\u00e9notypes comportementaux<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\"><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Endoph\u00e9notypes cognitifs<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.genes2cognition.org\/\">https:\/\/www.genes2cognition.org\/<\/a><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n\n\n\n<div class=\"wp-block-media-text alignwide has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-5a5f2f6c\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cons\u00e9quences supraindividuelles. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Au-del\u00e0 de l\u2019individu, les diff\u00e9rents niveaux d\u2019organisation interindividuelle peuvent \u00e9galement \u00eatre sensibles \u00e0 l\u2019int\u00e9r\u00eat clinique.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Famille.<\/li>\n\n\n\n<li>Soci\u00e9t\u00e9.<\/li>\n\n\n\n<li>Culture. <\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"699\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-60.png\" alt=\"\" class=\"wp-image-3854 size-full\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-60.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-60-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-60-768x524.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-60-18x12.png 18w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>Comment construire un laboratoire de neurop\u00e9diatrie. Nous pouvons analyser les m\u00e9canismes des maladies neurop\u00e9diatriques \u00e0 diff\u00e9rents niveaux biologiques. Certaines maladies sont typiquement impliqu\u00e9es dans l\u2019une d\u2019entre elles, tandis que d\u2019autres participent de mani\u00e8re r\u00e9currente \u00e0 plusieurs. Cependant, les regrouper en groupes fonctionnels est utile pour analyser leurs \u00e9l\u00e9ments communs et favoriser leur compr\u00e9hension du point de vue\u2026 <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/fr\/laboratorio\/\" class=\"more-link\">Continuer la lecture<span class=\"screen-reader-text\"> \"Laboratoire\"<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":3249,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"class_list":["post-3246","page","type-page","status-publish","has-post-thumbnail","hentry","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/pages\/3246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/comments?post=3246"}],"version-history":[{"count":25,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/pages\/3246\/revisions"}],"predecessor-version":[{"id":8551,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/pages\/3246\/revisions\/8551"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/media\/3249"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/media?parent=3246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}