STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
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Understanding Genotypes and Phenotypes in Epileptic EncephalopathiesAutism spectrum disorder and epileptic encephalopathy: common causes, many questions.Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.Beyond the SNARE: Munc18-1 chaperones α-synuclein.Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.DNM1 encephalopathy: A new disease of vesicle fission.Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.Dravet syndrome and its mimics: Beyond SCN1A.STXBP1-Related EOEE - Early Onset Epilepsy AND Encephalopathy, or is it Early Onset Epileptic Encephalopathy?Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.STXBP1 as a therapeutic target for epileptic encephalopathy.De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.The Krebs Cycle Enzyme Isocitrate Dehydrogenase 3A Couples Mitochondrial Metabolism to Synaptic Transmission.Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome.A possible link between KCNQ2- and STXBP1-related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin-1A on M current.Evidence for a conserved inhibitory binding mode between the membrane fusion assembly factors Munc18 and syntaxin in animals.Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency.Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies.Epileptic Encephalopathies as Neurodegenerative Disorders.Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.Recent Advances in Neonatal Seizures.Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy.Genomic analysis identifies masqueraders of full-term cerebral palsy.Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones
P2860
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P2860
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
@en
type
label
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
@en
prefLabel
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
@en
P2093
P50
P1433
P1476
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
@en
P2093
Andreas Merkenschlager
Andreas Tzschach
Anne Destrée
Antonino Romeo
Carlo Minetti
Carolina Courage
Corrie E Erasmus
Damien Lederer
Gerhard J Kluger
Gianluca Casara
P304
P356
10.1212/WNL.0000000000002457
P407
P577
2016-02-10T00:00:00Z