De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
about
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug DiscoveryPotassium Channels and Human Epileptic Phenotypes: An Updated OverviewAdvancing epilepsy genetics in the genomic eraMolecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channelsBurden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesPharmacogenetic and case-control study on potassium channel related gene variants and genetic generalized epilepsy.De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.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.mirDNMR: a gene-centered database of background de novo mutation rates in human.Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy.Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme.KCNA2-Related Epileptic Encephalopathy.Annotating pathogenic non-coding variants in genic regionsDe Novo Mutations in YWHAG Cause Early-Onset Epilepsy.Precision physiology and rescue of brain ion channel disorders.De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Determinants of frequency-dependent regulation of Kv1.2-containing potassium channelsPotassium Channels in Epilepsy.Environmental Health and Long Non-coding RNAsPrecision medicine in genetic epilepsies: break of dawn?Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.The role of genetic testing in epilepsy diagnosis and management.Models for discovery of targeted therapy in genetic epileptic encephalopathies.Pitfalls in genetic testing: the story of missed SCN1A mutations.Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsyDravet syndrome and its mimics: Beyond SCN1A.Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.Pore size matters for potassium channel conductance.The Planar Cell Polarity Transmembrane Protein Vangl2 Promotes Dendrite, Spine and Glutamatergic Synapse Formation in the Mammalian Forebrain.Extracellular redox sensitivity of Kv1.2 potassium channels.A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxiaExome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.Coronary microvascular Kv1 channels as regulatory sensors of intracellular pyridine nucleotide redox potential.
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P2860
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
description
2015 nî lūn-bûn
@nan
2015 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մարտին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
@ast
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
@en
type
label
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
@ast
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
@en
prefLabel
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
@ast
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
@en
P2093
P2860
P50
P356
P1433
P1476
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
@en
P2093
Andreas Merkenschlager
Arvid Suls
Christian M Korff
Dorota Hoffman-Zacharska
Erik Riesch
EuroEPINOMICS RES consortium
Günter Krämer
Hande S Caglayan
Heidrun Löffler
Heinrich Vogt
P2860
P2888
P304
P356
10.1038/NG.3239
P407
P50
P577
2015-03-09T00:00:00Z