{"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>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 Este recurso proporciona un registro actualizado de las variantes patog\u00e9nicas y mutaciones gen\u00e9ticas que presentan un impacto cl\u00ednico relevante o inter\u00e9s cient\u00edfico destacado en neuropediatr\u00eda y gen\u00e9tica del neurodesarrollo. Incluye anotaciones detalladas sobre variantes en canales i\u00f3nicos (SCN1A, KCNQ2) y transportadores neuronales con correlaci\u00f3n fenot\u00edpica directa.<\/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}]}}