CHD2 variants are a risk factor for photosensitivity in epilepsy - Test2 - elhamkhani - TriplyDB

CHD2 variants are a risk factor for photosensitivity in epilepsy

CHD2 variants are a risk factor for photosensitivity in epilepsy

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Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish Advancing epilepsy genetics in the genomic era Quantitative magnetic resonance imaging traits as endophenotypes for genetic mapping in epilepsy Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1 Genetics and genomics of autism spectrum disorder: embracing complexity.Molecular subtyping and improved treatment of neurodevelopmental disease.Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.Photosensitivity and CHD2 Variants.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Dravet syndrome and its mimics: Beyond SCN1A.Gain-of-function HCN2 variants in genetic epilepsy.Alterations in the α2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.Brain activity patterns in high-throughput electrophysiology screen predict both drug efficacies and side effects.Photosensitive epilepsy is associated with reduced inhibition of alpha rhythm generating networks.Global characterization of copy number variants in epilepsy patients from whole genome sequencing.Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy.

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CHD2 variants are a risk factor for photosensitivity in epilepsy

http://www.wikidata.org/entity/Q35529727

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2015 nî lūn-bûn

@nan

2015 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի մարտին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

@zh-hk

2015年論文

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2015年論文

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2015年论文

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name

CHD2 variants are a risk factor for photosensitivity in epilepsy

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CHD2 variants are a risk factor for photosensitivity in epilepsy

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CHD2 variants are a risk factor for photosensitivity in epilepsy

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CHD2 variants are a risk factor for photosensitivity in epilepsy

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CHD2 variants are a risk factor for photosensitivity in epilepsy

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CHD2 variants are a risk factor for photosensitivity in epilepsy

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CHD2 variants are a risk factor for photosensitivity in epilepsy

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Alexander D Crawford

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Amy L Schneider

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Ann-Kathrin Ruppert

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Antonietta Coppola

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Athanasios Covanis

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Bobby P C Koeleman

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Bosanka Jocic-Jakubi

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Candace T Myers

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Carolien G F de Kovel

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Christopher Boustred

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P2860

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

Characterization of the CHD family of proteins

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

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

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

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

A general framework for estimating the relative pathogenicity of human genetic variants

Genic intolerance to functional variation and the interpretation of personal genomes

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1198-1207

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scholarly article

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10.1093/BRAIN/AWV052

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Pt 5

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138

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Ingrid Scheffer

Peter Nürnberg

Anna-Elina Lehesjoki

Camila V Esguerra

Rikke S Møller

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2015-03-17T00:00:00Z

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273832411

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25783594

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4407192

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