(Q46015905)

English

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

scientific article published in November 2011

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scholarly article

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17 January 2020

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

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17 January 2020

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17 January 2020

Annalisa Bucchi

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17 January 2020

Benedetta Terragni

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17 January 2020

Mirko Baruscotti

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17 January 2020

author name string

Jacopo C DiFrancesco

1

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17 January 2020

Raffaella Milanesi

3

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17 January 2020

Stefania Coco

4

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17 January 2020

Georgia Bottelli

6

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17 January 2020

Carlo Ferrarese

7

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17 January 2020

Silvana Franceschetti

8

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17 January 2020

Dario DiFrancesco

11

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17 January 2020

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publication date

1 November 2011

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17 January 2020

Journal of Neuroscience

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17 January 2020

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17 January 2020

48

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17 January 2020

17327-17337

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17 January 2020

Dendritic Ih normalizes temporal summation in hippocampal CA1 neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human gene coding for HCN2, a pacemaker channel of the heart

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and functional heterogeneity of hyperpolarization-activated pacemaker channels in the mouse CNS.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Persistently modified h-channels after complex febrile seizures convert the seizure-induced enhancement of inhibition to hyperexcitability

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pharmacological upregulation of h-channels reduces the excitability of pyramidal neuron dendrites

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperpolarization-activated cation currents: from molecules to physiological function

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence epilepsy and sinus dysrhythmia in mice lacking the pacemaker channel HCN2

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Channelopathies as a genetic cause of epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pacemaker channel dysfunction in a patient with sinus node disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural basis for modulation and agonist specificity of HCN pacemaker channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Voltage-dependent gating of hyperpolarization-activated, cyclic nucleotide-gated pacemaker channels: molecular coupling between the S4-S5 and C-linkers.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunohistochemical localization of Ih channel subunits, HCN1-4, in the rat brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic mechanisms that underlie epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seizure-induced plasticity of h channels in entorhinal cortical layer III pyramidal neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A behavioral role for dendritic integration: HCN1 channels constrain spatial memory and plasticity at inputs to distal dendrites of CA1 pyramidal neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Salt bridges and gating in the COOH-terminal region of HCN2 and CNGA1 channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The carboxyl-terminal region of cyclic nucleotide-modulated channels is a gating ring, not a permeation path

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of idiopathic epilepsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ion channel defects in idiopathic epilepsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

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Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

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Decreased IH in hippocampal area CA1 pyramidal neurons after perinatal seizure-inducing hypoxia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct activation of cardiac pacemaker channels by intracellular cyclic AMP.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

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Inherited cortical HCN1 channel loss amplifies dendritic calcium electrogenesis and burst firing in a rat absence epilepsy model.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

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Epileptogenic channelopathies: experimental models of human pathologies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

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Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

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Impaired hippocampal rhythmogenesis in a mouse model of mesial temporal lobe epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive dendritic HCN channelopathy during epileptogenesis in the rat pilocarpine model of epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HCN1 channels constrain synaptically evoked Ca2+ spikes in distal dendrites of CA1 pyramidal neurons.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperpolarization activated cyclic-nucleotide gated (HCN) channels in developing neuronal networks

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

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Mechanisms of human inherited epilepsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited neuronal ion channelopathies: new windows on complex neurological diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Febrile seizures: mechanisms and relationship to epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HCN hyperpolarization-activated cation channels inhibit EPSPs by interactions with M-type K(+) channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Postnatal development of dendritic synaptic integration in rat neocortical pyramidal neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperpolarization-activated cation channels: from genes to function

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of dendritic HCN1 subunits enhances cortical excitability and epileptogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double Trouble? Potential for Hyperexcitability Following Both Channelopathic up- and Downregulation of I(h) in Epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased basal synaptic inhibition of hippocampal area CA1 pyramidal neurons by an antiepileptic drug that enhances I(H).

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperpolarized views on the roles of the hyperpolarization-activated channels in neuronal excitability

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Augmented currents of an HCN2 variant in patients with febrile seizure syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HCN channels in behavior and neurological disease: too hyper or not active enough?

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

How does adrenaline accelerate the heart?

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pacemaker mechanisms in cardiac tissue.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Properties of the hyperpolarization-activated current in rat hippocampal CA1 pyramidal cells.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Queer current and pacemaker: the hyperpolarization-activated cation current in neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/22131395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1523/JNEUROSCI.3727-11.2011

1 reference

Europe PubMed Central

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17 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131395%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

Europe PubMed Central

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17 January 2020

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