Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.
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Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing TechnologyPotassium Channels and Human Epileptic Phenotypes: An Updated OverviewFoxP1 orchestration of ASD-relevant signaling pathways in the striatum.Sodium channel β subunits: emerging targets in channelopathiesPaternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generationWhole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathiesDe Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.Xenopus borealis as an alternative source of oocytes for biophysical and pharmacological studies of neuronal ion channels.Intra- and Intersubunit Dynamic Binding in Kv4.2 Channel Closed-State Inactivationdenovo-db: a compendium of human de novo variants.Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder.Transcriptional Gene Silencing of the Autism-Associated Long Noncoding RNA MSNP1AS in Human Neural Progenitor Cells.Lessons learned from gene identification studies in Mendelian epilepsy disorders.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Autism genetics - an overview.Exploiting aberrant mRNA expression in autism for gene discovery and diagnosis.Genetic and epigenetic mechanisms of epilepsy: a review.MicroRNA-Mediated Downregulation of the Potassium Channel Kv4.2 Contributes to Seizure Onset.High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.Closed-state inactivation involving an internal gate in Kv4.1 channels modulates pore blockade by intracellular quaternary ammonium ions.Autism treatments proposed by clinical studies and human genetics are complementary.Genomic Patterns of De Novo Mutation in Simplex Autism.Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening.De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.A-type K channels impede supralinear summation of clustered glutamatergic inputs in layer 3 neocortical pyramidal neuronsSaikosaponin A modulates remodeling of Kv4.2-mediated A-type voltage-gated potassium currents in rat chronic temporal lobe epilepsy
P2860
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P2860
Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.
description
2014 nî lūn-bûn
@nan
2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին 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
Exome sequencing identifies de ...... otassium channel inactivation.
@ast
Exome sequencing identifies de ...... otassium channel inactivation.
@en
type
label
Exome sequencing identifies de ...... otassium channel inactivation.
@ast
Exome sequencing identifies de ...... otassium channel inactivation.
@en
prefLabel
Exome sequencing identifies de ...... otassium channel inactivation.
@ast
Exome sequencing identifies de ...... otassium channel inactivation.
@en
P2093
P2860
P356
P1476
Exome sequencing identifies de ...... otassium channel inactivation.
@en
P2093
Diane M Papazian
Harley I Kornblum
Meng-chin A Lin
Stanley F Nelson
P2860
P304
P356
10.1093/HMG/DDU056
P577
2014-02-05T00:00:00Z