De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
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Network science for the identification of novel therapeutic targets in epilepsyAdvancing epilepsy genetics in the genomic eraNeurological aspects of human glycosylation disordersThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesGNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studiesIndependent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic EncephalopathyThe anatomical distribution of genetic associations.Understanding Genotypes and Phenotypes in Epileptic EncephalopathiesMechanisms of sudden unexplained death in epilepsyIn silico prioritization based on coexpression can aid epileptic encephalopathy gene discoverySeizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinaseDysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsySimultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathyEpileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingRare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.Genome-wide analysis of differential RNA editing in epilepsy.GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.Mutations in HECW2 are associated with intellectual disability and epilepsyRecessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.Systematic noise degrades gene co-expression signals but can be corrected.Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.A roadmap for precision medicine in the epilepsies.BIG1 is required for the survival of deep layer neurons, neuronal polarity, and the formation of axonal tracts between the thalamus and neocortex in developing brain.Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes.TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.2014 Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic ConditionsMosaic mutations in early-onset genetic diseases.De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.
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P2860
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
description
2014 nî lūn-bûn
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2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
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2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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name
De novo mutations in synaptic ...... use epileptic encephalopathies
@ast
De novo mutations in synaptic ...... use epileptic encephalopathies
@en
De novo mutations in synaptic ...... use epileptic encephalopathies
@nl
type
label
De novo mutations in synaptic ...... use epileptic encephalopathies
@ast
De novo mutations in synaptic ...... use epileptic encephalopathies
@en
De novo mutations in synaptic ...... use epileptic encephalopathies
@nl
prefLabel
De novo mutations in synaptic ...... use epileptic encephalopathies
@ast
De novo mutations in synaptic ...... use epileptic encephalopathies
@en
De novo mutations in synaptic ...... use epileptic encephalopathies
@nl
P2860
P3181
P1476
De novo mutations in synaptic ...... use epileptic encephalopathies
@en
P2860
P304
P3181
P356
10.1016/J.AJHG.2014.08.013
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2014-10-02T00:00:00Z