De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
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Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceAdvancing epilepsy genetics in the genomic eraAdvances on genetic rat models of epilepsy.Epileptic encephalopathies: new genes and new pathwaysHcn1 is a tremorgenic genetic component in a rat model of essential tremorGenes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.The Human Phenotype Ontology in 2017Obtaining genetic testing in pediatric epilepsyStructures of the Human HCN1 Hyperpolarization-Activated ChannelDe novo KCNB1 mutations in epileptic encephalopathy.Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutationsWhole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathiesGenetic basis of pediatric epilepsy syndromes.Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.A di-arginine ER retention signal regulates trafficking of HCN1 channels from the early secretory pathway to the plasma membrane.De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathyAn N-Terminal ER Export Signal Facilitates the Plasma Membrane Targeting of HCN1 Channels in Photoreceptors.Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.A roadmap for precision medicine in the epilepsies.Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.2014 Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic ConditionsGene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathymirDNMR: a gene-centered database of background de novo mutation rates in human.Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.Dysfunctional HCN ion channels in neurological diseases.The genetics of the epilepsies.Genetic studies in intellectual disability and related disorders.The contribution of next generation sequencing to epilepsy genetics.De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.Hyperpolarization-Activated Cyclic Nucleotide-Gated (HCN) Channels in EpilepsyHCN Channels Modulators: The Need for Selectivity.Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.Models for discovery of targeted therapy in genetic epileptic encephalopathies.Pitfalls in genetic testing: the story of missed SCN1A mutations.Dravet syndrome and its mimics: Beyond SCN1A.
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P2860
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
description
2014 nî lūn-bûn
@nan
2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
@ast
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
@en
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
@nl
type
label
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
@ast
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
@en
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
@nl
prefLabel
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
@ast
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
@en
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
@nl
P2093
P50
P356
P1433
P1476
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
@en
P2093
Agnès Rastetter
Angela Robbiano
Arvid Suls
Aude Nicolas
Bobby P C Koeleman
Boris Keren
Carine Dalle
Carolien G F de Kovel
Caroline Nava
Christel Depienne
P2888
P304
P356
10.1038/NG.2952
P407
P50
P577
2014-04-20T00:00:00Z