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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Pubblicato in:Front Mol Neurosci
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2018
Soggetti:
Neuroscience
Accesso online: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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