A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability

A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability

The causes of genetic epilepsies are unknown in the majority of patients. HCN ion channels have a widespread expression in neurons and increasing evidence demonstrates their functional involvement in human epilepsies. Among the four known isoforms, HCN1 is the most expressed in the neocortex and hip...

Full description

Bibliographic Details
Main Authors: Mattia Bonzanni, Jacopo C. DiFrancesco, Raffaella Milanesi, Giulia Campostrini, Barbara Castellotti, Annalisa Bucchi, Mirko Baruscotti, Carlo Ferrarese, Silvana Franceschetti, Laura Canafoglia, Francesca Ragona, Elena Freri, Angelo Labate, Antonio Gambardella, Cinzia Costa, Ilaria Rivolta, Cinzia Gellera, Tiziana Granata, Andrea Barbuti, Dario DiFrancesco
Format: Article
Language:English
Published: Elsevier 2018-10-01
Series:Neurobiology of Disease
Subjects:
HCN1
Genetic generalized epilepsy
Electrophysiology
Membrane excitability
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996118301918

Internet

http://www.sciencedirect.com/science/article/pii/S0969996118301918

Similar Items