Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
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Targeted Treatment in Childhood Epilepsy SyndromesRecent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceFrom UBE3A to Angelman syndrome: a substrate perspectiveAdvancing epilepsy genetics in the genomic eraThe eEF1A Proteins: At the Crossroads of Oncogenesis, Apoptosis, and Viral InfectionsMechanisms of sudden unexplained death in epilepsyObtaining genetic testing in pediatric epilepsyDiscovery of CLC transport proteins: cloning, structure, function and pathophysiologyMolecular mechanisms of epilepsyX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesSimultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathyDe novo KCNB1 mutations in epileptic encephalopathy.Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 micePrioritizing genes for X-linked diseases using population exome data.Electro-clinical-pathological correlations in focal cortical dysplasia (FCD) at young ages.SPTAN1 encephalopathy: distinct phenotypes and genotypes.Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndromeGenetic regulation of gene expression in the epileptic human hippocampus.Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathiesMolecular Genetics of Epilepsy: A Clinician's Perspective.Genetic testing in the epilepsies-developments and dilemmas.WONOEP appraisal: new genetic approaches to study epilepsyThe hidden genetics of epilepsy-a clinically important new paradigm.Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.Exome sequencing identifies three novel candidate genes implicated in intellectual disabilitySingle nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.Characterisation of translation elongation factor eEF1B subunit expression in mammalian cells and tissues and co-localisation with eEF1A2.MLIF Alleviates SH-SY5Y Neuroblastoma Injury Induced by Oxygen-Glucose Deprivation by Targeting Eukaryotic Translation Elongation Factor 1A2.Genetic Testing in Epileptic Encephalopathy: Rosetta Stone or Just an Expensive Rock?Molecular subtyping and improved treatment of neurodevelopmental disease.Suppression of Enhancer Overactivation by a RACK7-Histone Demethylase ComplexGenetic forms of epilepsies and other paroxysmal disordersReducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention
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P2860
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
description
2013 nî lūn-bûn
@nan
2013 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
@ast
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
@en
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
@nl
type
label
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
@ast
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
@en
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
@nl
prefLabel
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
@ast
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
@en
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
@nl
P2093
P2860
P3181
P356
P1433
P1476
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
@en
P2093
Asa Barth-Maron
Daniel Wolf
Dinesh Talwar
John Salogiannis
Krishna R Veeramah
Laurel Johnstone
Linda L Restifo
Marjorie Pazzi
Michael E Greenberg
Michael F Hammer
P2860
P304
P3181
P356
10.1111/EPI.12201
P407
P577
2013-07-01T00:00:00Z