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Article

Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 30 Nov 2011

DiFrancesco Jacopo C, Barbuti Andrea, Milanesi Raffaella, Coco Stefania, Bucchi Annalisa, Bottelli Georgia, Ferrarese Carlo, Franceschetti Silvana, Terragni Benedetta, Baruscotti Mirko, DiFrancesco Dario

Abstract excerpt

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 contributing to epileptogenesis. Indeed, I(h) is pathologically altered after experimentally induced seizures, and...

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Identifiers

PMID: 22131395
DOI: 10.1523/JNEUROSCI.3727-11.2011
PMCID: PMC6623833

Genes

HCN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.PMID 22131395Read ↗

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