{"id":2414,"date":"2022-09-24T09:47:01","date_gmt":"2022-09-24T09:47:01","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2414"},"modified":"2026-06-22T16:29:01","modified_gmt":"2026-06-22T16:29:01","slug":"notable-mutations","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/fr\/notable-mutations\/","title":{"rendered":"Des mutations remarquables !"},"content":{"rendered":"<h2 class=\"wp-block-heading\">Base de donn\u00e9es de mutations notables<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Cette ressource fournit un enregistrement mis \u00e0 jour des variantes pathog\u00e8nes et des mutations g\u00e9n\u00e9tiques qui ont un impact clinique pertinent ou un int\u00e9r\u00eat scientifique notable en neurop\u00e9diatrie et en g\u00e9n\u00e9tique neurod\u00e9veloppementale. Comprend des annotations d\u00e9taill\u00e9es sur les variantes des canaux ioniques (SCN1A, KCNQ2) et des transporteurs neuronaux avec corr\u00e9lation ph\u00e9notypique directe.<\/p>","protected":false},"excerpt":{"rendered":"<p>Base de donn\u00e9es sur les mutations notables Cette ressource fournit un registre \u00e0 jour des variantes pathog\u00e8nes et des mutations g\u00e9n\u00e9tiques qui ont un impact clinique pertinent ou un int\u00e9r\u00eat scientifique notable en neurop\u00e9diatrie et en g\u00e9n\u00e9tique neurod\u00e9veloppementale. Comprend des annotations d\u00e9taill\u00e9es sur les variantes des canaux ioniques (SCN1A, KCNQ2) et des transporteurs neuronaux avec corr\u00e9lation ph\u00e9notypique directe.<\/p>","protected":false},"author":1,"featured_media":2421,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-2414","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts\/2414","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/types\/post"}],"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=2414"}],"version-history":[{"count":2,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts\/2414\/revisions"}],"predecessor-version":[{"id":8297,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts\/2414\/revisions\/8297"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/media\/2421"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/media?parent=2414"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/categories?post=2414"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/tags?post=2414"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}