The genetic landscape of infantile spasms - Wikidata - awgldk - TriplyDB

The genetic landscape of infantile spasms

The genetic landscape of infantile spasms

http://www.wikidata.org/entity/Q57041043

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Advancing epilepsy genetics in the genomic era Neurological aspects of human glycosylation disorders Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner.Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.WONOEP appraisal: new genetic approaches to study epilepsy Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing Genetic Testing in Epileptic Encephalopathy: Rosetta Stone or Just an Expensive Rock?Epileptic spasms are a feature of DEPDC5 mTORopathy.West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1 Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy.Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Lessons learned from gene identification studies in Mendelian epilepsy disorders.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.Does treatment have an impact on incidence and risk factors for autism spectrum disorders in children with infantile spasms?The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.APC conditional knock-out mouse is a model of infantile spasms with elevated neuronal β-catenin levels, neonatal spasms, and chronic seizures.ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.Knockin' Out the Spasms.How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium.Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.Commentary: 2016 Clinical Epilepsia Prize.Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.Ectopic neurogenesis induced by prenatal antiepileptic drug exposure augments seizure susceptibility in adult mice.Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.ACTH and PMX53 recover synaptic transcriptome alterations in a rat model of infantile spasms.Incorporating epilepsy genetics into clinical practice: a 360°evaluation.

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The genetic landscape of infantile spasms

http://www.wikidata.org/entity/Q57041043

description

article

@en

im September 2014 veröffentlichter wissenschaftlicher Artikel

@de

wetenschappelijk artikel

@nl

наукова стаття, опублікована у вересні 2014

@uk

name

The genetic landscape of infantile spasms

@en

The genetic landscape of infantile spasms

@nl

type

label

The genetic landscape of infantile spasms

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The genetic landscape of infantile spasms

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The genetic landscape of infantile spasms

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The genetic landscape of infantile spasms

@nl

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Human Molecular Genetics

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The genetic landscape of infantile spasms

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Anne Lortie

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Elsa Rossignol

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Emmanuelle Lemyre

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Fadi F Hamdan

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Heather C Mefford

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Inge A Meijer

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Jacques L Michaud

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Lionel Carmant

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Mathieu Lachance

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Paola Diadori

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P2860

Perlecan controls neurogenesis in the developing telencephalon

Rare chromosomal deletions and duplications increase risk of schizophrenia

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Latrophilin 1 and its endogenous ligand Lasso/teneurin-2 form a high-affinity transsynaptic receptor pair with signaling capabilities

A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

De novo mutations in epileptic encephalopathies

Neurexin-neuroligin signaling in synapse development

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

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4846-58

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scholarly article

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10.1093/HMG/DDU199

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18

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23

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2014-09-15T00:00:00Z

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24781210

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