Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).
about
The Elongator subcomplex Elp456 is a hexameric RecA-like ATPaseCrystal Structure of Elongator Subcomplex Elp4-6Phosphorylation of Elp1 by Hrr25 is required for elongator-dependent tRNA modification in yeast.A conserved and essential basic region mediates tRNA binding to the Elp1 subunit of the Saccharomyces cerevisiae Elongator complex.The Many Faces of Elongator in Neurodevelopment and DiseaseModify or die?--RNA modification defects in metazoansLoss of a conserved tRNA anticodon modification perturbs cellular signalingImaging and genetics of language and cognition in pediatric epilepsyAssociation analysis using next-generation sequence data from publicly available control groups: the robust variance score statisticRBFOX1 and RBFOX3 mutations in rolandic epilepsyA pure likelihood approach to the analysis of genetic association data: an alternative to Bayesian and frequentist analysis.The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous systemGenetic testing in the epilepsies--report of the ILAE Genetics CommissionInvolvement of BcElp4 in vegetative development, various environmental stress response and virulence of Botrytis cinereaGABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy.The genetics of reading disability in an often excluded sample: novel loci suggested for reading disability in Rolandic epilepsy.CELF4 regulates translation and local abundance of a vast set of mRNAs, including genes associated with regulation of synaptic function.A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family.A neurocognitive endophenotype associated with rolandic epilepsy.Striatal hypertrophy and its cognitive effects in new-onset benign epilepsy with centrotemporal spikesMutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfismElongator: transcriptional or translational regulator?A neurodevelopmental basis for BECTS: evidence from structural MRIA microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.Benign rolandic epileptiform discharges are associated with mood and behavior problemsBlinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies."Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances.The new ILAE report on terminology and concepts for the organization of epilepsies: critical review and contribution.Dissecting the genetic basis of myoclonic-astatic epilepsy.How should we be searching for genes for common epilepsy? A critique and a prescription.Prioritizing rare variants with conditional likelihood ratios.Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue.A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.Animal and cellular models of familial dysautonomia.Reply to: Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia.Classification of childhood epilepsies in a tertiary pediatric neurology clinic using a customized classification scheme from the international league against epilepsy 2010 report.Evidence for linkage of migraine in Rolandic epilepsy to known 1q23 FHM2 and novel 17q22 genetic loci.
P2860
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P2860
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Centrotemporal sharp wave EEG ...... gator Protein Complex 4 (ELP4)
@nl
Centrotemporal sharp wave EEG ...... ator Protein Complex 4 (ELP4).
@ast
Centrotemporal sharp wave EEG ...... ator Protein Complex 4 (ELP4).
@en
type
label
Centrotemporal sharp wave EEG ...... gator Protein Complex 4 (ELP4)
@nl
Centrotemporal sharp wave EEG ...... ator Protein Complex 4 (ELP4).
@ast
Centrotemporal sharp wave EEG ...... ator Protein Complex 4 (ELP4).
@en
prefLabel
Centrotemporal sharp wave EEG ...... gator Protein Complex 4 (ELP4)
@nl
Centrotemporal sharp wave EEG ...... ator Protein Complex 4 (ELP4).
@ast
Centrotemporal sharp wave EEG ...... ator Protein Complex 4 (ELP4).
@en
P2093
P2860
P3181
P356
P1476
Centrotemporal sharp wave EEG ...... ator Protein Complex 4 (ELP4).
@en
P2093
Bhavna Bali
David A Greenberg
David E Mandelbaum
Elaine Wirrell
Huntley Hardison
James J Russo
Jingyue Ju
Lisa J Strug
Minchen Chien
P2860
P2888
P304
P3181
P356
10.1038/EJHG.2008.267
P407
P577
2009-01-28T00:00:00Z
P5875
P6179
1004783126