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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Detalhes bibliográficos
Publicado no:Front Mol Neurosci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
Assuntos:
Neuroscience
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6089338/
https://ncbi.nlm.nih.gov/pubmed/30127718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnmol.2018.00269
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