Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. - Wikidata - awgldk - TriplyDB

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.

http://www.wikidata.org/entity/Q39735946

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Functional analysis of missense variants in the TRESK (KCNK18) K channel Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy De novo mutations in epileptic encephalopathies Sudden unexpected death in epilepsy: Identifying risk and preventing mortality Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders Challenges in medical applications of whole exome/genome sequencing discoveries Following the genes: a framework for animal modeling of psychiatric disorders Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models The molecular pathogenesis of migraine: new developments and opportunities Genome wide association studies (GWAS) and common forms of human epilepsy FoxP1 orchestration of ASD-relevant signaling pathways in the striatum.Spreading depolarization in the brainstem mediates sudden cardiorespiratory arrest in mouse SUDEP models Ion channels in genetic and acquired forms of epilepsy.Quantitative magnetic resonance imaging traits as endophenotypes for genetic mapping in epilepsy Mechanisms of sudden unexplained death in epilepsy Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function Exome sequencing: a transformative technology Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy CRL4A(CRBN) E3 ubiquitin ligase restricts BK channel activity and prevents epileptogenesis.Profiling neuronal ion channelopathies with non-invasive brain imaging and dynamic causal models: Case studies of single gene mutations Noise-induced plasticity of KCNQ2/3 and HCN channels underlies vulnerability and resilience to tinnitus.Ins and outs of T-channel structure function.Joint mouse-human phenome-wide association to test gene function and disease risk.Clinical review of genetic epileptic encephalopathies Expanded genetic codes in next generation sequencing enable decontamination and mitochondrial enrichment.Genetic testing in the epilepsies-developments and dilemmas.Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline.Adaptive transcriptional dynamics of A2 neurons and central cardiovascular control pathways.Calcium channel auxiliary α2δ and β subunits: trafficking and one step beyond.Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.The hidden genetics of epilepsy-a clinically important new paradigm.CLC channel function and dysfunction in health and disease.Genes contributing to pain sensitivity in the normal population: an exome sequencing study.

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Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.

http://www.wikidata.org/entity/Q39735946

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2011年学术文章

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2011年學術文章

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2011年學術文章

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2011年學術文章

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name

Exome sequencing of ion channe ...... l risk assessment in epilepsy.

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Exome sequencing of ion channe ...... l risk assessment in epilepsy.

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type

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Exome sequencing of ion channe ...... l risk assessment in epilepsy.

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Exome sequencing of ion channe ...... l risk assessment in epilepsy.

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Exome sequencing of ion channe ...... l risk assessment in epilepsy.

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Exome sequencing of ion channe ...... l risk assessment in epilepsy.

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Exome sequencing of ion channe ...... l risk assessment in epilepsy.

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Dan Burgess

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David Wheeler

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Donna Muzny

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Tim Chen

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P2860

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Finding the missing heritability of complex diseases

The complete genome of an individual by massively parallel DNA sequencing

IUPHAR-DB: the IUPHAR database of G protein-coupled receptors and ion channels

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis

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

Sodium channel molecular conformations and antiarrhythmic drug affinity

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test

Exome sequencing identifies the cause of a mendelian disorder

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1036-1048

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