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Genetic therapeutic advancements for Dravet Syndrome.
Chilcott, Ellie; Díaz, Juan Antinao; Bertram, Cori; Berti, Margherita; Karda, Rajvinder.
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  • Chilcott E; UCL Institute for Women's Health, 86-96 Chenies Mews, London WC1E 6HX, UK.
  • Díaz JA; UCL Institute for Women's Health, 86-96 Chenies Mews, London WC1E 6HX, UK.
  • Bertram C; UCL Institute for Women's Health, 86-96 Chenies Mews, London WC1E 6HX, UK.
  • Berti M; UCL Institute for Women's Health, 86-96 Chenies Mews, London WC1E 6HX, UK.
  • Karda R; UCL Institute for Women's Health, 86-96 Chenies Mews, London WC1E 6HX, UK. Electronic address: r.karda@ucl.ac.uk.
Epilepsy Behav ; 132: 108741, 2022 07.
Article en En | MEDLINE | ID: mdl-35653814
Dravet Syndrome is a genetic epileptic syndrome characterized by severe and intractable seizures associated with cognitive, motor, and behavioral impairments. The disease is also linked with increased mortality mainly due to sudden unexpected death in epilepsy. Over 80% of cases are due to a de novo mutation in one allele of the SCN1A gene, which encodes the α-subunit of the voltage-gated ion channel NaV1.1. Dravet Syndrome is usually refractory to antiepileptic drugs, which only alleviate seizures to a small extent. Viral, non-viral genetic therapy, and gene editing tools are rapidly enhancing and providing new platforms for more effective, alternative medicinal treatments for Dravet syndrome. These strategies include gene supplementation, CRISPR-mediated transcriptional activation, and the use of antisense oligonucleotides. In this review, we summarize our current knowledge of novel genetic therapies that are currently under development for Dravet syndrome.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Epilepsias Mioclónicas / Epilepsia Límite: Humans Idioma: En Revista: Epilepsy Behav Asunto de la revista: CIENCIAS DO COMPORTAMENTO / NEUROLOGIA Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Epilepsias Mioclónicas / Epilepsia Límite: Humans Idioma: En Revista: Epilepsy Behav Asunto de la revista: CIENCIAS DO COMPORTAMENTO / NEUROLOGIA Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos