![\"Epilepsy-related](\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/07\/Epilepsy-related-genetic-conditions-displaying-potential-specific-therapeutic-approaches.png\")
Desglose Cl\u00ednico de los Abordajes Terap\u00e9uticos Representados<\/h3>\n\n
A continuaci\u00f3n se detallan las principales categor\u00edas moleculares y las dianas terap\u00e9uticas representadas en la tabla:<\/p>\n\n
1. Canalopat\u00edas de Sodio y Potasio<\/h4>\n\n - SCN1A (S\u00edndrome de Dravet – P\u00e9rdida de funci\u00f3n):<\/strong> Abordaje de precisi\u00f3n con fenfluramina, cannabidiol, estiripentol, clobazam y valproato<\/em>. 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
- SCN2A y SCN8A (Variantes de Ganancia de Funci\u00f3n en debut temprano):<\/strong> Indicaci\u00f3n preferente de bloqueadores de canales de sodio<\/em> a dosis altas (fenito\u00edna, carbamazepina), que restablecen la hiperexcitabilidad de membrana.<\/li>\n
- KCNQ2 \/ KCNQ3 (Canales de potasio Kv7.2\/Kv7.3):<\/strong> Apertura selectiva de canales K+ mediante retigabina (ezogabina)<\/em> y respuesta favorable a bloqueadores de sodio como carbamazepina en fases tempranas.<\/li>\n
- KCNT1 (Canales de potasio dependientes de Na+):<\/strong> Uso de quinidina<\/em> como modulador espec\u00edfico off-label en epilepsias focales migrantes infantiles refractarias.<\/li>\n<\/ul>\n\n
2. Trastornos Metab\u00f3licos y del Transporte Cerebral<\/h4>\n\n - SLC2A1 (D\u00e9ficit del transportador cerebral de glucosa GLUT1):<\/strong> Terapia de sustituci\u00f3n obligada mediante Dieta Cetog\u00e9nica<\/em> precoz, aportando cuerpos cet\u00f3nicos como sustrato energ\u00e9tico cerebral alternativo a la glucosa.<\/li>\n
- ALDH7A1 \/ PNPO (Epilepsias dependientes de piridoxina):<\/strong> Suplementaci\u00f3n espec\u00edfica de por vida con piridoxina (vitamina B6)<\/em> o piridoxal 5′-fosfato (PLP)<\/em>.<\/li>\n<\/ul>\n\n
3. mTORopat\u00edas y V\u00edas de Proliferaci\u00f3n\/Se\u00f1alizaci\u00f3n<\/h4>\n\n - TSC1 \/ TSC2 (Complejo de Esclerosis Tuberosa) y DEPDC5 \/ NPRL2 \/ NPRL3 (Complejo GATOR1):<\/strong> Hiperactivaci\u00f3n de la cascada intracelular mTOR. Abordaje dirigido con inhibidores de mTOR (Everolimus, Sirolimus)<\/em> para el control de crisis y displasias corticales focales asociadas.<\/li>\n<\/ul>\n\n
4. Moduladores de Receptores y V\u00edas Sin\u00e1pticas<\/h4>\n\n - GRIN2A \/ GRIN2B (Subunidades de receptores NMDA):<\/strong> Modulaci\u00f3n alost\u00e9rica y bloqueo de receptores NMDA mediante memantina<\/em> en variantes con ganancia de funci\u00f3n.<\/li>\n
- PCDH19 (Protocadherina 19):<\/strong> Terapias moduladoras de neuroesteroides (ganaxolona<\/em>) y protocolos hormonales espec\u00edficos.<\/li>\n<\/ul>\n\n
Bibliograf\u00eda<\/h3>\n\n\n\t\t19955111<\/span>\n\t\t{19955111:6YYVTK6C}<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n\t\t1<\/span>\n\t\tvancouver<\/span>\n\t\t50<\/span>\n\t\tdefault<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n 7473<\/span>\n\t\thttps:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t\n\t\t\t\n\t\t\t\t<\/span>%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%226YYVTK6C%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Beltr%5Cu00e1n-Corbellini%20et%20al.%22%2C%22parsedDate%22%3A%222022-02-17%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BBeltr%26%23xE1%3Bn-Corbellini%20%26%23xC1%3B%2C%20Aledo-Serrano%20%26%23xC1%3B%2C%20M%26%23xF8%3Bller%20RS%2C%20P%26%23xE9%3Brez-Palma%20E%2C%20Garc%26%23xED%3Ba-Morales%20I%2C%20Toledano%20R%2C%20et%20al.%20Epilepsy%20Genetics%20and%20Precision%20Medicine%20in%20Adults%3A%20A%20New%20Landscape%20for%20Developmental%20and%20Epileptic%20Encephalopathies.%20Front%20Neurol%20%5BInternet%5D.%202022%20Feb%2017%20%5Bcited%202026%20June%2015%5D%3B13.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.frontiersin.org%5C%2Fjournals%5C%2Fneurology%5C%2Farticles%5C%2F10.3389%5C%2Ffneur.2022.777115%5C%2Ffull%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.frontiersin.org%5C%2Fjournals%5C%2Fneurology%5C%2Farticles%5C%2F10.3389%5C%2Ffneur.2022.777115%5C%2Ffull%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Epilepsy%20Genetics%20and%20Precision%20Medicine%20in%20Adults%3A%20A%20New%20Landscape%20for%20Developmental%20and%20Epileptic%20Encephalopathies%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22%5Cu00c1lvaro%22%2C%22lastName%22%3A%22Beltr%5Cu00e1n-Corbellini%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22%5Cu00c1ngel%22%2C%22lastName%22%3A%22Aledo-Serrano%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Rikke%20S.%22%2C%22lastName%22%3A%22M%5Cu00f8ller%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Eduardo%22%2C%22lastName%22%3A%22P%5Cu00e9rez-Palma%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Irene%22%2C%22lastName%22%3A%22Garc%5Cu00eda-Morales%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Rafael%22%2C%22lastName%22%3A%22Toledano%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Antonio%22%2C%22lastName%22%3A%22Gil-Nagel%22%7D%5D%2C%22abstractNote%22%3A%22This%20review%20aims%20to%20provide%20an%20updated%20perspective%20of%20epilepsy%20genetics%20and%20precision%20medicine%20in%20adult%20patients%2C%20with%20special%20focus%20on%20developmental%20and%20epileptic%20encephalopathies%20%28DEEs%29%2C%20covering%20relevant%20and%20controversial%20issues%2C%20such%20as%20defining%20candidates%20for%20genetic%20testing%2C%20which%20genetic%20tests%20to%20request%20and%20how%20to%20interpret%20them.%20A%20literature%20review%20was%20conducted%2C%20including%20findings%20in%20the%20discussion%20and%20recommendations.%20DEEs%20are%20wide%20and%20phenotypically%20heterogeneous%20electroclinical%20syndromes.%20They%20generally%20have%20a%20pediatric%20presentation%2C%20but%20patients%20frequently%20reach%20adulthood%20still%20undiagnosed.%20Identifying%20the%20etiology%20is%20essential%2C%20because%20there%20lies%20the%20key%20for%20precision%20medicine.%20Phenotypes%20modify%20according%20to%20age%2C%20and%20although%20deep%20phenotyping%20has%20allowed%20to%20outline%20certain%20entities%2C%20genotype-phenotype%20correlations%20are%20still%20poor%2C%20commonly%20leading%20to%20long-lasting%20diagnostic%20odysseys%20and%20ineffective%20therapies.%20Recent%20adult%20series%20show%20that%20the%20target%20patients%20to%20be%20identified%20for%20genetic%20testing%20are%20those%20with%20epilepsy%20and%20different%20risk%20factors.%20The%20clinician%20should%20take%20active%20part%20in%20the%20assessment%20of%20the%20pathogenicity%20of%20the%20variants%20detected%2C%20especially%20concerning%20variants%20of%20uncertain%20significance.%20An%20accurate%20diagnosis%20implies%20precision%20medicine%2C%20meaning%20genetic%20counselling%2C%20prognosis%2C%20possible%20future%20therapies%2C%20and%20a%20reduction%20of%20iatrogeny.%20Up%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\n 1.<\/div>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: 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>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n\n","protected":false},"excerpt":{"rendered":"\u9057\u4f20\u6027\u766b\u75eb\u548c\u53d1\u80b2\u6027\u8111\u75c5 (DEE) \u7684\u7cbe\u51c6\u533b\u5b66 \u795e\u7ecf\u53d1\u80b2\u6027\u548c\u766b\u75eb\u6027\u8111\u75c5 (DEE) \u7684\u7cbe\u51c6\u533b\u5b66\u65e8\u5728\u9488\u5bf9\u60a3\u8005\u9057\u4f20\u53d8\u5f02\u7684\u75c5\u7406\u751f\u7406\u5b66\u548c\u5206\u5b50\u673a\u5236\u6307\u5bfc\u836f\u7269\u6cbb\u7597\uff0c\u907f\u514d\u65e0\u6548\u6216\u6709\u5bb3\u7684\u6cbb\u7597\u3002\u4e0b\u9762\u4ecb\u7ecd\u7684\u6cbb\u7597\u65b9\u6cd5\u7684\u4e34\u5e8a\u7ec6\u5206...... <\/p>\n
2. Trastornos Metab\u00f3licos y del Transporte Cerebral<\/h4>\n\n - SLC2A1 (D\u00e9ficit del transportador cerebral de glucosa GLUT1):<\/strong> Terapia de sustituci\u00f3n obligada mediante Dieta Cetog\u00e9nica<\/em> precoz, aportando cuerpos cet\u00f3nicos como sustrato energ\u00e9tico cerebral alternativo a la glucosa.<\/li>\n
- ALDH7A1 \/ PNPO (Epilepsias dependientes de piridoxina):<\/strong> Suplementaci\u00f3n espec\u00edfica de por vida con piridoxina (vitamina B6)<\/em> o piridoxal 5′-fosfato (PLP)<\/em>.<\/li>\n<\/ul>\n\n
3. mTORopat\u00edas y V\u00edas de Proliferaci\u00f3n\/Se\u00f1alizaci\u00f3n<\/h4>\n\n - TSC1 \/ TSC2 (Complejo de Esclerosis Tuberosa) y DEPDC5 \/ NPRL2 \/ NPRL3 (Complejo GATOR1):<\/strong> Hiperactivaci\u00f3n de la cascada intracelular mTOR. Abordaje dirigido con inhibidores de mTOR (Everolimus, Sirolimus)<\/em> para el control de crisis y displasias corticales focales asociadas.<\/li>\n<\/ul>\n\n
4. Moduladores de Receptores y V\u00edas Sin\u00e1pticas<\/h4>\n\n - GRIN2A \/ GRIN2B (Subunidades de receptores NMDA):<\/strong> Modulaci\u00f3n alost\u00e9rica y bloqueo de receptores NMDA mediante memantina<\/em> en variantes con ganancia de funci\u00f3n.<\/li>\n
- PCDH19 (Protocadherina 19):<\/strong> Terapias moduladoras de neuroesteroides (ganaxolona<\/em>) y protocolos hormonales espec\u00edficos.<\/li>\n<\/ul>\n\n
Bibliograf\u00eda<\/h3>\n\n\n\t\t19955111<\/span>\n\t\t{19955111:6YYVTK6C}<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n\t\t1<\/span>\n\t\tvancouver<\/span>\n\t\t50<\/span>\n\t\tdefault<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n 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\n 1.<\/div>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: 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>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n\n","protected":false},"excerpt":{"rendered":"\u9057\u4f20\u6027\u766b\u75eb\u548c\u53d1\u80b2\u6027\u8111\u75c5 (DEE) \u7684\u7cbe\u51c6\u533b\u5b66 \u795e\u7ecf\u53d1\u80b2\u6027\u548c\u766b\u75eb\u6027\u8111\u75c5 (DEE) \u7684\u7cbe\u51c6\u533b\u5b66\u65e8\u5728\u9488\u5bf9\u60a3\u8005\u9057\u4f20\u53d8\u5f02\u7684\u75c5\u7406\u751f\u7406\u5b66\u548c\u5206\u5b50\u673a\u5236\u6307\u5bfc\u836f\u7269\u6cbb\u7597\uff0c\u907f\u514d\u65e0\u6548\u6216\u6709\u5bb3\u7684\u6cbb\u7597\u3002\u4e0b\u9762\u4ecb\u7ecd\u7684\u6cbb\u7597\u65b9\u6cd5\u7684\u4e34\u5e8a\u7ec6\u5206...... <\/p>\n
3. mTORopat\u00edas y V\u00edas de Proliferaci\u00f3n\/Se\u00f1alizaci\u00f3n<\/h4>\n\n - TSC1 \/ TSC2 (Complejo de Esclerosis Tuberosa) y DEPDC5 \/ NPRL2 \/ NPRL3 (Complejo GATOR1):<\/strong> Hiperactivaci\u00f3n de la cascada intracelular mTOR. Abordaje dirigido con inhibidores de mTOR (Everolimus, Sirolimus)<\/em> para el control de crisis y displasias corticales focales asociadas.<\/li>\n<\/ul>\n\n
4. Moduladores de Receptores y V\u00edas Sin\u00e1pticas<\/h4>\n\n - GRIN2A \/ GRIN2B (Subunidades de receptores NMDA):<\/strong> Modulaci\u00f3n alost\u00e9rica y bloqueo de receptores NMDA mediante memantina<\/em> en variantes con ganancia de funci\u00f3n.<\/li>\n
- PCDH19 (Protocadherina 19):<\/strong> Terapias moduladoras de neuroesteroides (ganaxolona<\/em>) y protocolos hormonales espec\u00edficos.<\/li>\n<\/ul>\n\n
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\n 1.<\/div>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: 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>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n\n","protected":false},"excerpt":{"rendered":"\u9057\u4f20\u6027\u766b\u75eb\u548c\u53d1\u80b2\u6027\u8111\u75c5 (DEE) \u7684\u7cbe\u51c6\u533b\u5b66 \u795e\u7ecf\u53d1\u80b2\u6027\u548c\u766b\u75eb\u6027\u8111\u75c5 (DEE) \u7684\u7cbe\u51c6\u533b\u5b66\u65e8\u5728\u9488\u5bf9\u60a3\u8005\u9057\u4f20\u53d8\u5f02\u7684\u75c5\u7406\u751f\u7406\u5b66\u548c\u5206\u5b50\u673a\u5236\u6307\u5bfc\u836f\u7269\u6cbb\u7597\uff0c\u907f\u514d\u65e0\u6548\u6216\u6709\u5bb3\u7684\u6cbb\u7597\u3002\u4e0b\u9762\u4ecb\u7ecd\u7684\u6cbb\u7597\u65b9\u6cd5\u7684\u4e34\u5e8a\u7ec6\u5206...... <\/p>\n
4. Moduladores de Receptores y V\u00edas Sin\u00e1pticas<\/h4>\n\n - GRIN2A \/ GRIN2B (Subunidades de receptores NMDA):<\/strong> Modulaci\u00f3n alost\u00e9rica y bloqueo de receptores NMDA mediante memantina<\/em> en variantes con ganancia de funci\u00f3n.<\/li>\n
- PCDH19 (Protocadherina 19):<\/strong> Terapias moduladoras de neuroesteroides (ganaxolona<\/em>) y protocolos hormonales espec\u00edficos.<\/li>\n<\/ul>\n\n
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\n 1.<\/div>Beltr\u00e1n-Corbellini \u00c1, Aledo-Serrano \u00c1, M\u00f8ller RS, P\u00e9rez-Palma E, Garc\u00eda-Morales I, Toledano R, et al. 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1.<\/div>
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: 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>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n\n","protected":false},"excerpt":{"rendered":"
\u9057\u4f20\u6027\u766b\u75eb\u548c\u53d1\u80b2\u6027\u8111\u75c5 (DEE) \u7684\u7cbe\u51c6\u533b\u5b66 \u795e\u7ecf\u53d1\u80b2\u6027\u548c\u766b\u75eb\u6027\u8111\u75c5 (DEE) \u7684\u7cbe\u51c6\u533b\u5b66\u65e8\u5728\u9488\u5bf9\u60a3\u8005\u9057\u4f20\u53d8\u5f02\u7684\u75c5\u7406\u751f\u7406\u5b66\u548c\u5206\u5b50\u673a\u5236\u6307\u5bfc\u836f\u7269\u6cbb\u7597\uff0c\u907f\u514d\u65e0\u6548\u6216\u6709\u5bb3\u7684\u6cbb\u7597\u3002\u4e0b\u9762\u4ecb\u7ecd\u7684\u6cbb\u7597\u65b9\u6cd5\u7684\u4e34\u5e8a\u7ec6\u5206...... <\/p>\n