Antisense oligonucleotide therapy for KCNT1 encephalopathy

Developmental and epileptic encephalopathies (DEEs) are characterized by pharmaco-resistant seizures with concomitant intellectual disability. Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe of these syndromes. De novo variants in ion channels, including gain-of-f...

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Detalles Bibliográficos
Autores principales: Burbano, Lisseth Estefania, Li, Melody, Jancovski, Nikola, Jafar-Nejad, Paymaan, Richards, Kay, Sedo, Alicia, Soriano, Armand, Rollo, Ben, Jia, Linghan, Gazina, Elena V., Piltz, Sandra, Adikusuma, Fatwa, Thomas, Paul Q., Kopsidas, Helen, Rigo, Frank, Reid, Christopher A., Maljevic, Snezana, Petrou, Steven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9746904/
https://www.ncbi.nlm.nih.gov/pubmed/36173683
http://dx.doi.org/10.1172/jci.insight.146090

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9746904/
https://www.ncbi.nlm.nih.gov/pubmed/36173683
http://dx.doi.org/10.1172/jci.insight.146090

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