Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. - Wikidata - wikimedia - TriplyDB

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

http://www.wikidata.org/entity/Q36744661

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Introduction: Williams syndrome Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome The adhesion protein IgSF9b is coupled to neuroligin 2 via S-SCAM to promote inhibitory synapse development De novo origin of protein-coding genes in murine rodents Cross-disorder comparative analysis of comorbid conditions reveals novel autism candidate genes Westward ho! Pioneering mouse models for x-linked infantile spasms syndrome.Periventricular heterotopia in common microdeletion syndromes Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.Developing an animal model for infantile spasms: pathogenesis, problems and progress.An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression.Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.Substrain differences reveal novel disease-modifying gene candidates that alter the clinical course of a rodent model of multiple sclerosis.Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.Rare copy number variants are an important cause of epileptic encephalopathies.S-SCAM/MAGI-2 is an essential synaptic scaffolding molecule for the GluA2-containing maintenance pool of AMPA receptors.A genome-wide approach reveals novel imprinted genes expressed in the human placenta.Genetic and biologic classification of infantile spasms.MAGI2/S-SCAM outside brain.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.Current Treatment Options for Early-Onset Pediatric Epileptic Encephalopathies.APC conditional knock-out mouse is a model of infantile spasms with elevated neuronal β-catenin levels, neonatal spasms, and chronic seizures.Mapping DNA structural variation in dogs.Infantile spasms are associated with abnormal copy number variations.West Syndrome: A Review and Guide for Paediatricians.Inference of Causative Genes for Alzheimer's Disease Due to Dosage Imbalance.Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.Metabolic etiologies in West syndrome.Utilizing Animal Models of Infantile Spasms.The genetic landscape of infantile spasms

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P2860

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

http://www.wikidata.org/entity/Q36744661

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Infantile spasms is associated ...... on chromosome 7q11.23-q21.11.

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American Journal of Human Genetics

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Ariel M Pani

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Carolyn B Mervis

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Christian R Marshall

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A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins

Human chromosome 7: DNA sequence and biology

Structural variation of chromosomes in autism spectrum disorder

Detection of large-scale variation in the human genome

Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms

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

Three isoforms of synaptic scaffolding molecule and their characterization. Multimerization between the isoforms and their interaction with N-methyl-D-aspartate receptors and SAP90/PSD-95-associated protein

Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Causes of epilepsy: contributions of the Rochester epidemiology project.

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