{"id":7473,"date":"2024-07-04T14:24:53","date_gmt":"2024-07-04T14:24:53","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7473"},"modified":"2026-09-04T03:36:17","modified_gmt":"2026-09-04T03:36:17","slug":"medicina-de-precision-en-epilepsia-genetica","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/medicina-de-precision-en-epilepsia-genetica\/","title":{"rendered":"Precision medicine in genetic epilepsy."},"content":{"rendered":"<h2>Medicina de Precisi\u00f3n en Epilepsia Gen\u00e9tica y Encefalopat\u00edas del Desarrollo (DEEs)<\/h2>\n\n<p>La medicina de precisi\u00f3n en las encefalopat\u00edas del neurodesarrollo y epil\u00e9pticas (DEEs) busca dirigir el tratamiento farmacol\u00f3gico hacia el mecanismo fisiopatol\u00f3gico y molecular subyacente a la variante gen\u00e9tica del paciente, evitando terapias ineficaces o perjudiciales.<\/p>\n\n\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"850\" height=\"541\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/07\/Epilepsy-related-genetic-conditions-displaying-potential-specific-therapeutic-approaches.png\" alt=\"Epilepsy-related genetic conditions displaying potential specific therapeutic approaches\" class=\"wp-image-7474\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/07\/Epilepsy-related-genetic-conditions-displaying-potential-specific-therapeutic-approaches.png 850w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/07\/Epilepsy-related-genetic-conditions-displaying-potential-specific-therapeutic-approaches-300x191.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/07\/Epilepsy-related-genetic-conditions-displaying-potential-specific-therapeutic-approaches-768x489.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/07\/Epilepsy-related-genetic-conditions-displaying-potential-specific-therapeutic-approaches-18x12.png 18w\" sizes=\"(max-width: 850px) 100vw, 850px\" \/><figcaption>Figura: Condiciones gen\u00e9ticas asociadas a epilepsia y sus abordajes terap\u00e9uticos de precisi\u00f3n espec\u00edficos (Adaptado de Beltr\u00e1n-Corbellini et al., Front. Neurol. 2022).<\/figcaption><\/figure>\n\n\n<h3>Desglose Cl\u00ednico de los Abordajes Terap\u00e9uticos Representados<\/h3>\n\n<p>A continuaci\u00f3n se detallan las principales categor\u00edas moleculares y las dianas terap\u00e9uticas representadas en la tabla:<\/p>\n\n<h4>1. Canalopat\u00edas de Sodio y Potasio<\/h4>\n<ul>\n    <li><strong>SCN1A (S\u00edndrome de Dravet &#8211; P\u00e9rdida de funci\u00f3n):<\/strong> Abordaje de precisi\u00f3n con <em>fenfluramina, cannabidiol, estiripentol, clobazam y valproato<\/em>. <strong>Alerta de precisi\u00f3n:<\/strong> Est\u00e1n formalmente contraindicados los bloqueadores de canales de sodio (carbamazepina, fenito\u00edna, lamotrigina) por riesgo de empeoramiento severo y crisis refractarias.<\/li>\n    <li><strong>SCN2A y SCN8A (Variantes de Ganancia de Funci\u00f3n en debut temprano):<\/strong> Indicaci\u00f3n preferente de <em>bloqueadores de canales de sodio<\/em> a dosis altas (fenito\u00edna, carbamazepina), que restablecen la hiperexcitabilidad de membrana.<\/li>\n    <li><strong>KCNQ2 \/ KCNQ3 (Canales de potasio Kv7.2\/Kv7.3):<\/strong> Apertura selectiva de canales K+ mediante <em>retigabina (ezogabina)<\/em> y respuesta favorable a bloqueadores de sodio como carbamazepina en fases tempranas.<\/li>\n    <li><strong>KCNT1 (Canales de potasio dependientes de Na+):<\/strong> Uso de <em>quinidina<\/em> como modulador espec\u00edfico off-label en epilepsias focales migrantes infantiles refractarias.<\/li>\n<\/ul>\n\n<h4>2. Trastornos Metab\u00f3licos y del Transporte Cerebral<\/h4>\n<ul>\n    <li><strong>SLC2A1 (D\u00e9ficit del transportador cerebral de glucosa GLUT1):<\/strong> Terapia de sustituci\u00f3n obligada mediante <em>Dieta Cetog\u00e9nica<\/em> precoz, aportando cuerpos cet\u00f3nicos como sustrato energ\u00e9tico cerebral alternativo a la glucosa.<\/li>\n    <li><strong>ALDH7A1 \/ PNPO (Epilepsias dependientes de piridoxina):<\/strong> Suplementaci\u00f3n espec\u00edfica de por vida con <em>piridoxina (vitamina B6)<\/em> o <em>piridoxal 5&#8242;-fosfato (PLP)<\/em>.<\/li>\n<\/ul>\n\n<h4>3. mTORopat\u00edas y V\u00edas de Proliferaci\u00f3n\/Se\u00f1alizaci\u00f3n<\/h4>\n<ul>\n    <li><strong>TSC1 \/ TSC2 (Complejo de Esclerosis Tuberosa) y DEPDC5 \/ NPRL2 \/ NPRL3 (Complejo GATOR1):<\/strong> Hiperactivaci\u00f3n de la cascada intracelular mTOR. Abordaje dirigido con <em>inhibidores de mTOR (Everolimus, Sirolimus)<\/em> para el control de crisis y displasias corticales focales asociadas.<\/li>\n<\/ul>\n\n<h4>4. Moduladores de Receptores y V\u00edas Sin\u00e1pticas<\/h4>\n<ul>\n    <li><strong>GRIN2A \/ GRIN2B (Subunidades de receptores NMDA):<\/strong> Modulaci\u00f3n alost\u00e9rica y bloqueo de receptores NMDA mediante <em>memantina<\/em> en variantes con ganancia de funci\u00f3n.<\/li>\n    <li><strong>PCDH19 (Protocadherina 19):<\/strong> Terapias moduladoras de neuroesteroides (<em>ganaxolona<\/em>) y protocolos hormonales espec\u00edficos.<\/li>\n<\/ul>\n\n<h3>Bibliograf\u00eda<\/h3>\n<div id=\"zotpress-54ccea87a6b0c9efd805f74eec5352af\" 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\">{19955111:6YYVTK6C}<\/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 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id=\"zp-ID-7473-19955111-6YYVTK6C\" data-zp-author-date='Beltr\u00e1n-Corbellini-et-al.-2022-02-17' data-zp-date-author='2022-02-17-Beltr\u00e1n-Corbellini-et-al.' data-zp-date='2022-02-17' data-zp-year='2022' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Beltr\u00e1n-Corbellini \u00c1, Aledo-Serrano \u00c1, M\u00f8ller RS, P\u00e9rez-Palma E, Garc\u00eda-Morales I, Toledano R, et al. Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies. Front Neurol [Internet]. 2022 Feb 17 [cited 2026 June 15];13. Available from: <a class='zp-ItemURL' href='https:\/\/www.frontiersin.org\/journals\/neurology\/articles\/10.3389\/fneur.2022.777115\/full'>https:\/\/www.frontiersin.org\/journals\/neurology\/articles\/10.3389\/fneur.2022.777115\/full<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n","protected":false},"excerpt":{"rendered":"<p>Precision Medicine in Genetic Epilepsy and Developmental Encephalopathies (DEEs) Precision medicine in neurodevelopmental and epileptic encephalopathies (DEEs) seeks to direct pharmacological treatment towards the pathophysiological and molecular mechanism underlying the patient's genetic variant, avoiding ineffective or harmful therapies. Clinical Breakdown of Therapeutic Approaches Represented Below\u2026 <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/en\/medicina-de-precision-en-epilepsia-genetica\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \u00abMedicina de precisi\u00f3n en epilepsia gen\u00e9tica.\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":7474,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[4],"tags":[],"class_list":["post-7473","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-epilepsia","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7473","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=7473"}],"version-history":[{"count":3,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7473\/revisions"}],"predecessor-version":[{"id":8622,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7473\/revisions\/8622"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/7474"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=7473"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=7473"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=7473"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}