A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome) - Wikidata - wikimedia - TriplyDB

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

http://www.wikidata.org/entity/Q24678062

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Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models Epileptic encephalopathies: new genes and new pathways Treatment of epileptic encephalopathies De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathies A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.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 impairment Gene expression in cortical interneuron precursors is prescient of their mature function.Clinical review of genetic epileptic encephalopathies The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.SPTAN1 encephalopathy: distinct phenotypes and genotypes.Genetics and biology of microcephaly and lissencephaly Westward ho! Pioneering mouse models for x-linked infantile spasms syndrome.Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies Arx is required for specification of the zona incerta and reticular nucleus of the thalamus.Infantile spasms: review of the literature and personal experience.Mutations in ARX Result in Several Defects Involving GABAergic Neurons.Molecular genetics of neuronal migration disorders.Genetic testing in the epilepsies--report of the ILAE Genetics Commission Emerging role of the KCNT1 Slack channel in intellectual disability.Regulation of histone H3K4 methylation in brain development and disease.Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4 Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.Candidate genes for idiopathic epilepsy in four dog breeds.Genetic testing in epilepsy: what should you be doing?Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.Epileptic encephalopathies in adults and childhood.Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.Identification of Arx transcriptional targets in the developing basal forebrain.Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.CDKL5 and ARX mutations in males with early-onset epilepsy.Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching."Epileptic encephalopathy" of infancy and childhood: electro-clinical pictures and recent understandings Genetic and biologic classification of infantile spasms.

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A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

http://www.wikidata.org/entity/Q24678062

description

2007 nî lūn-bûn

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2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2007 թվականի օգոստոսին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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A longer polyalanine expansion ...... st pattern (Ohtahara syndrome)

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A longer polyalanine expansion ...... st pattern (Ohtahara syndrome)

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A longer polyalanine expansion ...... st pattern (Ohtahara syndrome)

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A longer polyalanine expansion ...... st pattern (Ohtahara syndrome)

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A longer polyalanine expansion ...... st pattern (Ohtahara syndrome)

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A longer polyalanine expansion ...... st pattern (Ohtahara syndrome)

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A longer polyalanine expansion ...... st pattern (Ohtahara syndrome)

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A longer polyalanine expansion ...... st pattern (Ohtahara syndrome)

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American Journal of Human Genetics

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A longer polyalanine expansion ...... st pattern (Ohtahara syndrome)

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Atsushi Kamei

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Hideaki Shiraishi

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Jun Tohyama

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Kiyoshi Hayasaka

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Manami Akasaka

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Noriyuki Akasaka

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Yuki Ueda

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P2860

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

A new paradigm for West syndrome based on molecular and cell biology

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population.

Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases.

Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

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361-6

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10.1086/518903

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