Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy
about
Pentylenetetrazol-induced epileptiform activity affects basal synaptic transmission and short-term plasticity in monosynaptic connectionsXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingMutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardationSynapsin Isoforms and Synaptic Vesicle TraffickingRegulators of synaptic transmission: roles in the pathogenesis and treatment of epilepsyPRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disordersAlterations in Brain Inflammation, Synaptic Proteins, and Adult Hippocampal Neurogenesis during Epileptogenesis in Mice Lacking Synapsin2The conserved protein kinase-A target motif in synapsin of Drosophila is effectively modified by pre-mRNA editing.Synaptic proteins as multi-sensor devices of neurotransmissionEpilepsy: it's no syn.Fruit flies and intellectual disability.De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.BioGraph: unsupervised biomedical knowledge discovery via automated hypothesis generationSynapsin determines memory strength after punishment- and relief-learning.Epilepsy as a neurodevelopmental disorder.Cooperative regulation of neurotransmitter release by Rab3a and synapsin II.X linked mental retardation: a clinical guide.License to run: exercise impacts functional plasticity in the intact and injured central nervous system by using neurotrophins.Synaptic dysfunction and oxidative stress in Alzheimer's disease: emerging mechanisms.Temporal evolution of neurophysiological and behavioral features of synapsin I/II/III triple knock-out mice.Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticityPorcine synapsin 1: SYN1 gene analysis and functional characterization of the promoter.SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowthComplex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.Docosahexaenoic acid promotes hippocampal neuronal development and synaptic function.Synapsin II and Rab3a cooperate in the regulation of epileptic and synaptic activity in the CA1 region of the hippocampus.Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.O-linked β-N-acetylglucosamine (O-GlcNAc) site thr-87 regulates synapsin I localization to synapses and size of the reserve pool of synaptic vesicles.Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disabilityEmerging Synaptic Molecules as Candidates in the Etiology of Neurological Disorders.Endocytosis and signaling: cell logistics shape the eukaryotic cell plan.Genetics, molecular biology, and phenotypes of x-linked epilepsy.Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsinsSynapsin is required to "boost" memory strength for highly salient events.Intrathecal immunoglobulin A and G antibodies to synapsin in a patient with limbic encephalitis.Inflammatory aspects of epileptogenesis: contribution of molecular inflammatory mechanisms.Synaptic Vesicle-Recycling Machinery Components as Potential Therapeutic Targets.The expression and distribution of seizure-related and synaptic proteins in the insular cortex of rats genetically prone to audiogenic seizures.
P2860
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P2860
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy
description
2004 nî lūn-bûn
@nan
2004 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մարտին հրատարակված գիտական հոդված
@hy
2004年の論文
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2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Identification of a mutation i ...... ein, in a family with epilepsy
@ast
Identification of a mutation i ...... ein, in a family with epilepsy
@en
type
label
Identification of a mutation i ...... ein, in a family with epilepsy
@ast
Identification of a mutation i ...... ein, in a family with epilepsy
@en
prefLabel
Identification of a mutation i ...... ein, in a family with epilepsy
@ast
Identification of a mutation i ...... ein, in a family with epilepsy
@en
P2093
P356
P1476
Identification of a mutation i ...... ein, in a family with epilepsy
@en
P2093
C C Garcia
J A Goodship
P304
P356
10.1136/JMG.2003.013680
P407
P577
2004-03-01T00:00:00Z