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...

詳細記述

保存先:
書誌詳細
出版年:Front Mol Neurosci
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Frontiers Media S.A. 2018
主題:
Neuroscience
オンライン･アクセス: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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