De novo mutations in HCN1 cause early infantile epileptic encephalopathy (Q34416011)

2 August 2017

De novo mutations in HCN1 cause early infantile epileptic encephalopathy (English)

1 reference

infantile epileptic encephalopathy

2 August 2017

1 reference

21

0 references

Anna-Elina Lehesjoki

29

Anna-Elina Lehesjoki

1 reference

2 August 2017

Pasquale Striano

4

0 references

Eberhard Schneider

Eberhard Schneider

25

0 references

Padhraig Gormley

Padhraig Gormley

28

0 references

Stéphanie Baulac

Stéphanie Baulac

32

0 references

Federico Zara

Federico Zara

33

0 references

Suzanne Lesage

19

Suzanne Lesage

1 reference

2 August 2017

27

Sarah Weckhuysen

1 reference

2 August 2017

Nady El Hajj

24

0 references

Aude Nicolas

20

Aude Nicolas

1 reference

2 August 2017

18

Emmanuel Roze

1 reference

2 August 2017

22

Michel Baulac

1 reference

2 August 2017

10

Giuseppe Gobbi

1 reference

2 August 2017

Caroline Nava

1

1 reference

2 August 2017

Carine Dalle

2

1 reference

2 August 2017

Agnès Rastetter

3

1 reference

2 August 2017

Carolien G F de Kovel

5

1 reference

2 August 2017

Rima Nabbout

6

1 reference

2 August 2017

Claude Cancès

7

1 reference

2 August 2017

Dorothée Ville

8

1 reference

2 August 2017

Eva H Brilstra

9

1 reference

2 August 2017

Emmanuel Raffo

11

1 reference

2 August 2017

Delphine Bouteiller

12

1 reference

2 August 2017

Yannick Marie

13

1 reference

2 August 2017

Oriane Trouillard

14

1 reference

2 August 2017

Angela Robbiano

15

1 reference

2 August 2017

Boris Keren

16

1 reference

2 August 2017

Dahbia Agher

17

1 reference

2 August 2017

Cornelia Vogt

23

1 reference

2 August 2017

Arvid Suls

26

1 reference

2 August 2017

Peter De Jonghe

30

1 reference

2 August 2017

Ingo Helbig

31

1 reference

2 August 2017

Bobby P C Koeleman

34

1 reference

2 August 2017

EuroEPINOMICS RES Consortium

35

1 reference

2 August 2017

Thomas Haaf

36

1 reference

2 August 2017

Eric LeGuern

37

1 reference

2 August 2017

Christel Depienne

38

1 reference

2 August 2017

language of work or name

English

0 references

publication date

20 April 2014

1 reference

2 August 2017

1 reference

2 August 2017

46

1 reference

2 August 2017

640-645

1 reference

2 August 2017

6

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.2952

2 August 2017

0 references

cites work

Variation in genome-wide mutation rates within and between human families

1 reference

12 December 2020

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

1 reference

12 December 2020

HCN channels: function and clinical implications

1 reference

12 December 2020

A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain

1 reference

12 December 2020

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

1 reference

12 December 2020

The core Dravet syndrome phenotype

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

1 reference

12 December 2020

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

1 reference

12 December 2020

A copy number variation morbidity map of developmental delay

1 reference

12 December 2020

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

1 reference

12 December 2020

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

12 December 2020

Loss of dendritic HCN1 subunits enhances cortical excitability and epileptogenesis

1 reference

12 December 2020

Towards an integrated view of HCN channel role in epilepsy.

1 reference

12 December 2020

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

1 reference

12 December 2020

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

1 reference

12 December 2020

The Sequence Alignment/Map format and SAMtools

1 reference

12 December 2020

Fast and accurate long-read alignment with Burrows-Wheeler transform

1 reference

12 December 2020

Developmental febrile seizures modulate hippocampal gene expression of hyperpolarization-activated channels in an isoform- and cell-specific manner

1 reference

12 December 2020

Decreases in HCN mRNA expression in the hippocampus after kindling and status epilepticus in adult rats.

1 reference

12 December 2020

Upregulation of the hyperpolarization-activated cation current in rat thalamic relay neurones by acetazolamide

1 reference

12 December 2020

Population analysis of large copy number variants and hotspots of human genetic disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Increased seizure severity and seizure-related death in mice lacking HCN1 channels

1 reference

12 December 2020

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

1 reference

12 December 2020

Gabapentin increases the hyperpolarization-activated cation current Ih in rat CA1 pyramidal cells

1 reference

12 December 2020

The hyperpolarization-activated HCN1 channel is important for motor learning and neuronal integration by cerebellar Purkinje cells.

1 reference

12 December 2020

Hyperpolarization-activated cation channels: from genes to function

1 reference

12 December 2020

Differential and age-dependent expression of hyperpolarization-activated, cyclic nucleotide-gated cation channel isoforms 1-4 suggests evolving roles in the developing rat hippocampus

1 reference

12 December 2020

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

1 reference

12 December 2020

Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects

1 reference

12 December 2020

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

1 reference

12 December 2020

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

1 reference

12 December 2020

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

1 reference

12 December 2020

The Role of HCN Channels on Membrane Excitability in the Nervous System

1 reference

12 December 2020

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

1 reference

12 December 2020

Polarized and compartment-dependent distribution of HCN1 in pyramidal cell dendrites.

1 reference

12 December 2020

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular and functional analysis of hyperpolarization-activated pacemaker channels in the hippocampus after entorhinal cortex lesion.

1 reference

12 December 2020

Dindel: accurate indel calls from short-read data

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.2952

1 reference

2 August 2017

1 reference