Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
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Analysis of four DLX homeobox genes in autistic probandsDisruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationA longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsFragile X and X-linked intellectual disability: four decades of discoveryArx is required for normal enteroendocrine cell development in mice and humansHigh-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathiesA regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXInactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiationCaenorhabditis elegans aristaless/Arx gene alr-1 restricts variable gene expressionDe novo mutations in SIK1 cause a spectrum of developmental epilepsies.Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairmentThe c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.Neonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome.SPTAN1 encephalopathy: distinct phenotypes and genotypes.Westward ho! Pioneering mouse models for x-linked infantile spasms syndrome.Infantile spasms: review of the literature and personal experience.Mutations in ARX Result in Several Defects Involving GABAergic Neurons.Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.The Caenorhabditis elegans aristaless orthologue, alr-1, is required for maintaining the functional and structural integrity of the amphid sensory organs.Developing an animal model for infantile spasms: pathogenesis, problems and progress.Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?The genetic basis of non-syndromic intellectual disability: a reviewThe DLX1and DLX2 genes and susceptibility to autism spectrum disordersMouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons.GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.Dysgenesis of enteroendocrine cells in Aristaless-Related Homeobox polyalanine expansion mutations.Altered GABA signaling in early life epilepsies.Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.Genetics of photosensitivity (photoparoxysmal response): a review.Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.Aristaless Related Homeobox (ARX) Interacts with β-Catenin, BCL9, and P300 to Regulate Canonical Wnt Signaling.Epileptic spasms are a feature of DEPDC5 mTORopathy.Mutation screening of the ARX gene in patients with autismCDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.CDKL5 and ARX mutations in males with early-onset epilepsy.MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.The roles of multiple importins for nuclear import of murine aristaless-related homeobox protein.The glia of Caenorhabditis elegans.
P2860
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P2860
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
description
2002 nî lūn-bûn
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2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
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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
Infantile spasms, dystonia, an ...... ess related homeobox gene, ARX
@ast
Infantile spasms, dystonia, an ...... ess related homeobox gene, ARX
@en
Infantile spasms, dystonia, an ...... ess related homeobox gene, ARX
@nl
type
label
Infantile spasms, dystonia, an ...... ess related homeobox gene, ARX
@ast
Infantile spasms, dystonia, an ...... ess related homeobox gene, ARX
@en
Infantile spasms, dystonia, an ...... ess related homeobox gene, ARX
@nl
prefLabel
Infantile spasms, dystonia, an ...... ess related homeobox gene, ARX
@ast
Infantile spasms, dystonia, an ...... ess related homeobox gene, ARX
@en
Infantile spasms, dystonia, an ...... ess related homeobox gene, ARX
@nl
P50
P1476
Infantile spasms, dystonia, an ...... ess related homeobox gene, ARX
@en
P2093
Ingrid E Scheffer
Petter Strømme
P356
10.1016/S0387-7604(02)00079-7
P407
P577
2002-08-01T00:00:00Z