SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions

Pathogenic variations in the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene are responsible for multiple epilepsy phenotypes, including Dravet syndrome, febrile seizures (FS) and genetic epilepsy with FS plus. Phenotypic heterogeneity is a hallmark of SCN1A-related epilepsies, the causes...

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Detalles Bibliográficos
Autores principales: Pagni, Susanna, Custodio, Helena Martins, Frankish, Adam, Mudge, Jonathan M, Mills, James D, Sisodiya, Sanjay M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Bioinformatics Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162429/
https://www.ncbi.nlm.nih.gov/pubmed/36715146
http://dx.doi.org/10.1093/hmg/ddad015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162429/
https://www.ncbi.nlm.nih.gov/pubmed/36715146
http://dx.doi.org/10.1093/hmg/ddad015

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