Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy

Dravet syndrome (DS) is a developmental and epileptic encephalopathy that results from mutations in the Na(v)1.1 sodium channel encoded by SCN1A. Most known DS-causing mutations are in coding regions of SCN1A, but we recently identified several disease-associated SCN1A mutations in intron 20 that ar...

Descripción completa

Detalles Bibliográficos
Autores principales: Voskobiynyk, Yuliya, Battu, Gopal, Felker, Stephanie A., Cochran, J. Nicholas, Newton, Megan P., Lambert, Laura J., Kesterson, Robert A., Myers, Richard M., Cooper, Gregory M., Roberson, Erik D., Barsh, Gregory S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7790302/
https://www.ncbi.nlm.nih.gov/pubmed/33411788
http://dx.doi.org/10.1371/journal.pgen.1009195

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7790302/
https://www.ncbi.nlm.nih.gov/pubmed/33411788
http://dx.doi.org/10.1371/journal.pgen.1009195

Ejemplares similares