De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
about
Advancing epilepsy genetics in the genomic eraSexually dimorphic responses to early adversity: implications for affective problems and autism spectrum disorderExcess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityPrioritizing the development of mouse models for childhood brain disordersNovel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorderSPTAN1 encephalopathy: distinct phenotypes and genotypes.Detection of lower levels of SNAP25 using multiple microarray systems and its functional significance in medulloblastomaEpilepsy genetics--past, present, and futureThe genetic basis of non-syndromic intellectual disability: a reviewSevere infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrumSyntaxin binding protein 1 is not required for allergic inflammation via IgE-mediated mast cell activationIntellectual disability without epilepsy associated with STXBP1 disruption.The discovery of integrated gene networks for autism and related disorders.Detection of clinically relevant exonic copy-number changes by array CGH.The N-ethylmaleimide-sensitive factor and dysbindin interact to modulate synaptic plasticity.Advances in imaging ultrastructure yield new insights into presynaptic biologyHaploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.Incorporating Functional Information in Tests of Excess De Novo Mutational Load.Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Loss of Munc18-1 long splice variant in GABAergic terminals is associated with cognitive decline and increased risk of dementia in a community sampleThe trans-SNARE-regulating function of Munc18-1 is essential to synaptic exocytosisRegulation of dendrite growth and maintenance by exocytosis.Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.Synergistic association of STX1A and VAMP2 with cryptogenic epilepsy in North Indian population.Munc18-1 is a molecular chaperone for α-synuclein, controlling its self-replicating aggregationInvolvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy.Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disabilityMunc18-1 redistributes in nerve terminals in an activity- and PKC-dependent manner.GABRA1 and STXBP1: novel genetic causes of Dravet syndrome."Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances.A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders.The role of genetic testing in epilepsy diagnosis and management.Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.Asynchronous GABA Release Is a Key Determinant of Tonic Inhibition and Controls Neuronal Excitability: A Study in the Synapsin II-/- Mouse.Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.
P2860
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P2860
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
@en
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
@nl
type
label
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
@en
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
@nl
prefLabel
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
@en
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
@nl
P2093
P50
P356
P1433
P1476
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
@en
P2093
Anne Lortie
Anne Noreau
Claude Marineau
Edouard Henrion
Fadi F Hamdan
François Dubeau
Jacques L Michaud
Jean Claude Lacaille
Mélanie Côté
Pierre Drapeau
P304
P356
10.1002/ANA.21625
P577
2009-06-01T00:00:00Z