Article
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.
Neurobiology of disease - 1 Oct 2018
Bonzanni Mattia, DiFrancesco Jacopo C, Milanesi Raffaella, Campostrini Giulia, Castellotti Barbara, Bucchi Annalisa, Baruscotti Mirko, Ferrarese Carlo, Franceschetti Silvana, Canafoglia Laura, Ragona Francesca, Freri Elena, Labate Angelo, Gambardella Antonio, Costa Cinzia, Rivolta Ilaria, Gellera Cinzia, Granata Tiziana, Barbuti Andrea, DiFrancesco Dario
Abstract excerpt
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 hippocampus and de novo HCN1 point mutations have been recently associated with early infantile epileptic...
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