Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

Whole-exome sequencing (WES) in the clinic has identified several rare monogenic developmental and epileptic encephalopathies (DEE) caused by ion channel variants. However, WES often fails to provide actionable insight for rare diseases, such as DEEs, due to the challenges of interpreting variants o...

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Detalles Bibliográficos
Autores principales: Mukherjee, Souhrid, Cassini, Thomas A., Hu, Ningning, Yang, Tao, Li, Bian, Shen, Wangzhen, Moth, Christopher W., Rinker, David C., Sheehan, Jonathan H., Cogan, Joy D., Newman, John H., Hamid, Rizwan, Macdonald, Robert L., Roden, Dan M., Meiler, Jens, Kuenze, Georg, Phillips, John A., Capra, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9399384/
https://www.ncbi.nlm.nih.gov/pubmed/36035247
http://dx.doi.org/10.1016/j.xhgg.2022.100131

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9399384/
https://www.ncbi.nlm.nih.gov/pubmed/36035247
http://dx.doi.org/10.1016/j.xhgg.2022.100131

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