Mutations in ARX Result in Several Defects Involving GABAergic Neurons.
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Cellullar insights into cerebral cortical development: focusing on the locomotion mode of neuronal migrationPathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studiesA toolbox for spatiotemporal analysis of voltage-sensitive dye imaging data in brain slicesA regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXDe novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.Arx is required for specification of the zona incerta and reticular nucleus of the thalamus.Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrumRole of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyAltered GABA signaling in early life epilepsies.Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disordersAnalysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.Genomic perspectives of transcriptional regulation in forebrain development.Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression.Epilepsy as a neurodevelopmental disorder.Developmental interneuron subtype deficits after targeted loss of ArxAristaless Related Homeobox (ARX) Interacts with β-Catenin, BCL9, and P300 to Regulate Canonical Wnt Signaling.The Yin and Yen of GABA in Brain Development and Operation in Health and Disease.Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy.Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES).Molecules and mechanisms involved in the generation and migration of cortical interneuronsHomologs of genes expressed in Caenorhabditis elegans GABAergic neurons are also found in the developing mouse forebrain.Cortical interneurons from human pluripotent stem cells: prospects for neurological and psychiatric disease.Neonatal and Infantile Epilepsy: Acquired and Genetic Models.Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.A modular gain-of-function approach to generate cortical interneuron subtypes from ES cells.Arx together with FoxA2, regulates Shh floor plate expression.A novel mutation in the OAR domain of the ARX gene.A new mouse model of ARX dup24 recapitulates the patients' behavioural and fine motor alterations.INTERNEURONOPATHIES AND THEIR ROLE IN EARLY LIFE EPILEPSIES AND NEURODEVELOPMENTAL DISORDERS.Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?Identification of Arx targets unveils new candidates for controlling cortical interneuron migration and differentiation
P2860
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P2860
Mutations in ARX Result in Several Defects Involving GABAergic Neurons.
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutations in ARX Result in Several Defects Involving GABAergic Neurons.
@ast
Mutations in ARX Result in Several Defects Involving GABAergic Neurons.
@en
type
label
Mutations in ARX Result in Several Defects Involving GABAergic Neurons.
@ast
Mutations in ARX Result in Several Defects Involving GABAergic Neurons.
@en
prefLabel
Mutations in ARX Result in Several Defects Involving GABAergic Neurons.
@ast
Mutations in ARX Result in Several Defects Involving GABAergic Neurons.
@en
P2860
P356
P1476
Mutations in ARX Result in Several Defects Involving GABAergic Neurons.
@en
P2093
Gaëlle Friocourt
John G Parnavelas
P2860
P356
10.3389/FNCEL.2010.00004
P577
2010-03-11T00:00:00Z