De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies that are characterized by seizures and developmental delay. DEEs are primarily attributed to genetic causes and an increasing number of cases have been correlated with variants in ion channel genes. In this study, w...

Descripción completa

Detalles Bibliográficos
Autores principales: Stringer, Robin N., Jurkovicova-Tarabova, Bohumila, Souza, Ivana A., Ibrahim, Judy, Vacik, Tomas, Fathalla, Waseem Mahmoud, Hertecant, Jozef, Zamponi, Gerald W., Lacinova, Lubica, Weiss, Norbert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Micro Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8365958/
https://www.ncbi.nlm.nih.gov/pubmed/34399820
http://dx.doi.org/10.1186/s13041-021-00838-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8365958/
https://www.ncbi.nlm.nih.gov/pubmed/34399820
http://dx.doi.org/10.1186/s13041-021-00838-y

Ejemplares similares