X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX
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Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationCrystal structures of engrailed homeodomain mutants: implications for stability and dynamicsObtaining genetic testing in pediatric epilepsyGenotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathiesTargeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansionsInfantile spasms: review of the literature and personal experience.Mutations in ARX Result in Several Defects Involving GABAergic Neurons.The Caenorhabditis elegans aristaless orthologue, alr-1, is required for maintaining the functional and structural integrity of the amphid sensory organs.The genetic basis of non-syndromic intellectual disability: a reviewGenetics of photosensitivity (photoparoxysmal response): a review.The role of ARX in cortical development.A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.Genetic variations and associated pathophysiology in the management of epilepsy.Identification of Arx transcriptional targets in the developing basal forebrain.Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy.Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.ARX spectrum disorders: making inroads into the molecular pathology.The genetics of the epilepsies.Neonatal and Infantile Epilepsy: Acquired and Genetic Models.An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome.Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.A novel mutation in the OAR domain of the ARX gene.X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARXThe genetic landscape of infantile spasmsARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
P2860
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P2860
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX
description
2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
X-linked myoclonic epilepsy wi ...... ation in the homeobox gene ARX
@ast
X-linked myoclonic epilepsy wi ...... ation in the homeobox gene ARX
@en
X-linked myoclonic epilepsy wi ...... ation in the homeobox gene ARX
@nl
type
label
X-linked myoclonic epilepsy wi ...... ation in the homeobox gene ARX
@ast
X-linked myoclonic epilepsy wi ...... ation in the homeobox gene ARX
@en
X-linked myoclonic epilepsy wi ...... ation in the homeobox gene ARX
@nl
prefLabel
X-linked myoclonic epilepsy wi ...... ation in the homeobox gene ARX
@ast
X-linked myoclonic epilepsy wi ...... ation in the homeobox gene ARX
@en
X-linked myoclonic epilepsy wi ...... ation in the homeobox gene ARX
@nl
P2093
P50
P356
P1433
P1476
X-linked myoclonic epilepsy wi ...... ation in the homeobox gene ARX
@en
P2093
F L Phillips
G Parasivam
J C Mulley
S F Berkovic
P304
P356
10.1212/WNL.59.3.348
P407
P577
2002-08-01T00:00:00Z