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

2 August 2017

title

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

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infantile epileptic encephalopathy

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main subject

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21

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Anna-Elina Lehesjoki

29

Anna-Elina Lehesjoki

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2 August 2017

Pasquale Striano

4

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Eberhard Schneider

Eberhard Schneider

25

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Padhraig Gormley

Padhraig Gormley

28

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Stéphanie Baulac

Stéphanie Baulac

32

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Federico Zara

Federico Zara

33

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Suzanne Lesage

19

Suzanne Lesage

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2 August 2017

27

Sarah Weckhuysen

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2 August 2017

Nady El Hajj

24

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Aude Nicolas

20

Aude Nicolas

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18

Emmanuel Roze

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22

Michel Baulac

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10

Giuseppe Gobbi

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Caroline Nava

1

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Carine Dalle

2

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Agnès Rastetter

3

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Carolien G F de Kovel

5

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Rima Nabbout

6

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Claude Cancès

7

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Dorothée Ville

8

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Eva H Brilstra

9

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Emmanuel Raffo

11

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Delphine Bouteiller

12

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Yannick Marie

13

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Oriane Trouillard

14

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Angela Robbiano

15

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Boris Keren

16

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Dahbia Agher

17

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Cornelia Vogt

23

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Arvid Suls

26

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Peter De Jonghe

30

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Ingo Helbig

31

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Bobby P C Koeleman

34

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EuroEPINOMICS RES Consortium

35

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Thomas Haaf

36

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Eric LeGuern

37

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Christel Depienne

38

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2 August 2017

language of work or name

English

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publication date

20 April 2014

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2 August 2017

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2 August 2017

volume

46

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issue

6

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2 August 2017

page(s)

640-645

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

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cites work

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12 December 2020

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

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12 December 2020

HCN channels: function and clinical implications

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12 December 2020

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

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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.

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12 December 2020

The core Dravet syndrome phenotype

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12 December 2020

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

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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

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12 December 2020

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

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12 December 2020

A copy number variation morbidity map of developmental delay

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Loss of dendritic HCN1 subunits enhances cortical excitability and epileptogenesis

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12 December 2020

Towards an integrated view of HCN channel role in epilepsy.

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12 December 2020

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

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12 December 2020

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

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Hyperpolarization-activated cation channels: from genes to function

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

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12 December 2020

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

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12 December 2020

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

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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

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12 December 2020

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

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12 December 2020

Dindel: accurate indel calls from short-read data

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1038/NG.2952

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2 August 2017

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