Recessive Loss-of-Function Mutation in the Pacemaker HCN2 Channel Causing Increased Neuronal Excitability in a Patient with Idiopathic Generalized Epilepsy

The hyperpolarization-activated I(h) current, coded for by hyperpolarization-activated, cyclic nucleotide-gated (HCN) channels, controls synaptic integration and intrinsic excitability in many brain areas. Because of their role in pacemaker function, defective HCN channels are natural candidates for...

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Detalhes bibliográficos
Publicado no:J Neurosci
Main Authors: DiFrancesco, Jacopo C., Barbuti, Andrea, Milanesi, Raffaella, Coco, Stefania, Bucchi, Annalisa, Bottelli, Georgia, Ferrarese, Carlo, Franceschetti, Silvana, Terragni, Benedetta, Baruscotti, Mirko, DiFrancesco, Dario
Formato: Artigo
Idioma:Inglês
Publicado em: Society for Neuroscience 2011
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6623833/
https://ncbi.nlm.nih.gov/pubmed/22131395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.3727-11.2011
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