SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility

Mesial temporal lobe epilepsy with hippocampal sclerosis and a history of febrile seizures is associated with common variation at rs7587026, located in the promoter region of SCN1A. We sought to explore possible underlying mechanisms. SCN1A expression was analysed in hippocampal biopsy specimens of...

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Detalles Bibliográficos
Autores principales: Silvennoinen, Katri, Gawel, Kinga, Tsortouktzidis, Despina, Pitsch, Julika, Alhusaini, Saud, van Loo, Karen M. J., Picardo, Richard, Michalak, Zuzanna, Pagni, Susanna, Martins Custodio, Helena, Mills, James, Whelan, Christopher D., de Zubicaray, Greig I., McMahon, Katie L., van der Ent, Wietske, Kirstein-Smardzewska, Karolina J., Tiraboschi, Ettore, Mudge, Jonathan M., Frankish, Adam, Thom, Maria, Wright, Margaret J., Thompson, Paul M., Schoch, Susanne, Becker, Albert J., Esguerra, Camila V., Sisodiya, Sanjay M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9217876/
https://www.ncbi.nlm.nih.gov/pubmed/35551471
http://dx.doi.org/10.1007/s00401-022-02429-0

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