Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission
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Title
Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission
Authors
Keywords
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Journal
BRAIN
Volume 143, Issue 2, Pages 441-451
Publisher
Oxford University Press (OUP)
Online
2019-12-05
DOI
10.1093/brain/awz391
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Note: Only part of the references are listed.- Multiple factors maintain assembled trans-SNARE complexes in the presence of NSF and aSNAP
- (2019) Eric A Prinslow et al. eLife
- Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy
- (2018) Jovana Kovačević et al. BRAIN
- Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome
- (2018) Albert Orock et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones
- (2018) Noah Guy Lewis Guiberson et al. Nature Communications
- Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
- (2017) Noa Lipstein et al. JOURNAL OF CLINICAL INVESTIGATION
- Early Golgi Abnormalities and Neurodegeneration upon Loss of Presynaptic Proteins Munc18-1, Syntaxin-1, or SNAP-25
- (2017) Tatiana C. Santos et al. JOURNAL OF NEUROSCIENCE
- Munc13-1 and Munc18-1 together prevent NSF-dependent de-priming of synaptic vesicles
- (2017) Enqi He et al. Nature Communications
- Expert Opinion on the Management of Lennox–Gastaut Syndrome: Treatment Algorithms and Practical Considerations
- (2017) J. Helen Cross et al. Frontiers in Neurology
- Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome
- (2016) Janina Gburek-Augustat et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Superpriming of synaptic vesicles as a common basis for intersynapse variability and modulation of synaptic strength
- (2016) Holger Taschenberger et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The phenotypic spectrum of SCN8A encephalopathy
- (2015) J. Larsen et al. NEUROLOGY
- Merits and Limitations of Vesicle Pool Models in View of Heterogeneous Populations of Synaptic Vesicles
- (2015) Erwin Neher NEURON
- Synaptic Effects of Munc18-1 Alternative Splicing in Excitatory Hippocampal Neurons
- (2015) Marieke Meijer et al. PLoS One
- Munc18-1 redistributes in nerve terminals in an activity- and PKC-dependent manner
- (2014) Tony Cijsouw et al. JOURNAL OF CELL BIOLOGY
- Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
- (2014) Julian Schubert et al. NATURE GENETICS
- Molecular Mechanisms for Synchronous, Asynchronous, and Spontaneous Neurotransmitter Release
- (2013) Pascal S. Kaeser et al. Annual Review of Physiology
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
- (2013) Gemma L Carvill et al. NATURE GENETICS
- Epileptiform Activity and Cognitive Deficits in SNAP-25+/− Mice are Normalized by Antiepileptic Drugs
- (2012) Irene Corradini et al. CEREBRAL CORTEX
- Homozygous c.649dupC mutation inPRRT2worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences
- (2012) Angelo Labate et al. EPILEPSIA
- Intellectual disability without epilepsy associated with STXBP1 disruption
- (2011) Fadi F Hamdan et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
- (2011) Anna Fassio et al. HUMAN MOLECULAR GENETICS
- STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern
- (2010) Hirotomo Saitsu et al. EPILEPSIA
- Automated analysis of neuronal morphology, synapse number and synaptic recruitment
- (2010) Sabine K. Schmitz et al. JOURNAL OF NEUROSCIENCE METHODS
- De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
- (2008) Hirotomo Saitsu et al. NATURE GENETICS
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