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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Detaylı Bibliyografya
Asıl Yazarlar:	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
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	Frontiers Media S.A. 2018-08-01
Seri Bilgileri:	Frontiers in Molecular Neuroscience
Konular:	HCN4 epilepsy ion channels myoclonic epilepsy of infancy neuronal excitability
Online Erişim:	https://www.frontiersin.org/article/10.3389/fnmol.2018.00269/full
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A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability

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