{"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\/en\/notable-mutations\/","title":{"rendered":"Notable mutations!"},"content":{"rendered":"<h2 class=\"wp-block-heading\">Notable Mutations Database<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">This resource provides an updated record of pathogenic variants and genetic mutations that have relevant clinical impact or notable scientific interest in neuropediatrics and neurodevelopmental genetics. Includes detailed annotations on variants in ion channels (SCN1A, KCNQ2) and neuronal transporters with direct phenotypic correlation.<\/p>","protected":false},"excerpt":{"rendered":"<p>Notable Mutations Database This resource provides an up-to-date registry of pathogenic variants and genetic mutations that have relevant clinical impact or notable scientific interest in neuropediatrics and neurodevelopmental genetics. Includes detailed annotations on variants in ion channels (SCN1A, KCNQ2) and neuronal transporters with direct phenotypic correlation.<\/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\/en\/wp-json\/wp\/v2\/posts\/2414","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=2414"}],"version-history":[{"count":2,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2414\/revisions"}],"predecessor-version":[{"id":8297,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2414\/revisions\/8297"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2421"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2414"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2414"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2414"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}