Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome

Febrile infection‐related epilepsy syndrome (FIRES) is a devastating epilepsy characterized by new‐onset refractory status epilepticus with a prior febrile infection. We performed exome sequencing in 50 individuals with FIRES, including 27 patient–parent trios and 23 single probands, none of whom ha...

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Detalles Bibliográficos
Autores principales: Helbig, Ingo, Barcia, Giulia, Pendziwiat, Manuela, Ganesan, Shiva, Mueller, Stefanie H., Helbig, Katherine L., Vaidiswaran, Priya, Xian, Julie, Galer, Peter D., Afawi, Zaid, Specchio, Nicola, Kluger, Gerhard, Kuhlenbäumer, Gregor, Appenzeller, Silke, Wittig, Michael, Kramer, Uri, van Baalen, Andreas, Nabbout, Rima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448193/
https://www.ncbi.nlm.nih.gov/pubmed/32666661
http://dx.doi.org/10.1002/acn3.51062

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