Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability.

Cell reports. Medicine - 19 Dec 2023

Dos Santos Altair Brito, Larsen Silas Dalum, Guo Liangchen, Barbagallo Paola, Montalant Alexia, Verhage Matthijs, Sørensen Jakob Balslev, Perrier Jean-François

Abstract excerpt

De novo mutations in STXBP1 are among the most prevalent causes of neurodevelopmental disorders and lead to haploinsufficiency, cortical hyperexcitability, epilepsy, and other symptoms in people with mutations. Given that Munc18-1, the protein encoded by STXBP1, is essential for excitatory and inhibitory synaptic transmission, it is currently not understood why mutations cause hyperexcitability. We find that...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain Diseases
Share to Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Munc18 Proteins

Share to Mutation

Share to Neurons

Share to Synapses

Share to Synaptic Transmission

Source

Open in PubMed Open full text

Identifiers

PMID: 38086378
DOI: 10.1016/j.xcrm.2023.101308
PMCID: PMC10772346

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability.PMID 38086378Read ↗

<i>Stxbp1/Munc18-1</i> haploinsufficiency in mice recapitulates key features of <i>STXBP1</i> encephalopathy and impairs cortical inhibitionSemantic proximity Read ↗

Glutamatergic and GABAergic neurons mediate distinct neurodevelopmental phenotypes of <i>STXBP1</i> encephalopathySemantic proximity Read ↗

Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.Semantic proximity Read ↗

STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.Semantic proximity Read ↗

Cognitive and Motor Dysfunction in STXBP1 R406H Mice.Semantic proximity Read ↗

SCN1A channelopathies: Navigating from genotype to neural circuit dysfunctionSemantic proximity Read ↗

Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome.Semantic proximity Read ↗

Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient NeuronsSemantic proximity Read ↗

Synaptic imbalance and increased inhibition impair motor function in SMASemantic proximity Read ↗

Pannexin-1 channel activity regulates neurogenesis and cell survival in the developing cortexSemantic proximity Read ↗

Analysis of conditional heterozygous STXBP1 mutations in human neurons.Semantic proximity Read ↗

Early and transient increase in cortical pyramidal cell excitability and delayed alteration of evoked synaptic transmission and t-SNARE proteins content in the hippocampus and neocortex of neonatal and juvenile <i>STXBP1</i> heterozygous miceSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.