A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability

HCN channels are highly expressed and functionally relevant in neurons and increasing evidence demonstrates their involvement in the etiology of human epilepsies. Among HCN isoforms, HCN4 is important in cardiac tissue, where it underlies pacemaker activity. Despite being expressed also in deep stru...

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Detalles Bibliográficos
Autores principales: Campostrini, Giulia, DiFrancesco, Jacopo C., Castellotti, Barbara, Milanesi, Raffaella, Gnecchi-Ruscone, Tomaso, Bonzanni, Mattia, Bucchi, Annalisa, Baruscotti, Mirko, Ferrarese, Carlo, Franceschetti, Silvana, Canafoglia, Laura, Ragona, Francesca, Freri, Elena, Labate, Angelo, Gambardella, Antonio, Costa, Cinzia, Gellera, Cinzia, Granata, Tiziana, Barbuti, Andrea, DiFrancesco, Dario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089338/
https://www.ncbi.nlm.nih.gov/pubmed/30127718
http://dx.doi.org/10.3389/fnmol.2018.00269

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