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

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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Bibliographic Details
Main Authors: Giulia Campostrini, Jacopo C. DiFrancesco, Barbara Castellotti, Raffaella Milanesi, Tomaso Gnecchi-Ruscone, Mattia Bonzanni, Annalisa Bucchi, Mirko Baruscotti, Carlo Ferrarese, Silvana Franceschetti, Laura Canafoglia, Francesca Ragona, Elena Freri, Angelo Labate, Antonio Gambardella, Cinzia Costa, Cinzia Gellera, Tiziana Granata, Andrea Barbuti, Dario DiFrancesco
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-08-01
Series:Frontiers in Molecular Neuroscience
Subjects:
HCN4
epilepsy
ion channels
myoclonic epilepsy of infancy
neuronal excitability
Online Access:https://www.frontiersin.org/article/10.3389/fnmol.2018.00269/full

Internet

https://www.frontiersin.org/article/10.3389/fnmol.2018.00269/full

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