A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients

Mutations in the voltage-gated sodium channel Na(v)1.1 (SCN1A) are linked to various epileptic phenotypes with different severities, however, the consequences of newly identified SCN1A variants on patient phenotype is uncertain so far. The functional impact of nine SCN1A variants, including five nov...

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Detalles Bibliográficos
Autores principales: Kluckova, Daniela, Kolnikova, Miriam, Lacinova, Lubica, Jurkovicova-Tarabova, Bohumila, Foltan, Tomas, Demko, Viktor, Kadasi, Ludevit, Ficek, Andrej, Soltysova, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7314844/
https://www.ncbi.nlm.nih.gov/pubmed/32581296
http://dx.doi.org/10.1038/s41598-020-67215-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7314844/
https://www.ncbi.nlm.nih.gov/pubmed/32581296
http://dx.doi.org/10.1038/s41598-020-67215-y

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