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

Analysis of conditional heterozygous STXBP1 mutations in human neurons.

The Journal of clinical investigation - 1 Sept 2015

Patzke Christopher, Han Yan, Covy Jason, Yi Fei, Maxeiner Stephan, Wernig Marius, Südhof Thomas C

Abstract excerpt

Heterozygous mutations in the syntaxin-binding protein 1 (STXBP1) gene, which encodes Munc18-1, a core component of the presynaptic membrane-fusion machinery, cause infantile early epileptic encephalopathy (Ohtahara syndrome), but it is unclear how a partial loss of Munc18-1 produces this severe clinical presentation. Here, we generated human ES cells designed to conditionally express heterozygous and homozygous...

Read the complete abstract on PubMed

Topics

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

Share to Embryonic Stem Cells
Share to Evoked Potentials

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to HEK293 Cells

Share to Munc18 Proteins

Share to Neurons

Share to Neurotransmitter Agents

Share to Spasms, Infantile

Share to Syntaxin 1

Source

Open in PubMed Open full text

Identifiers

PMID: 26280581
DOI: 10.1172/JCI78612
PMCID: PMC4588304

Genes

STXBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of conditional heterozygous STXBP1 mutations in human neurons.PMID 26280581Read ↗

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

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

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

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

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

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.Semantic proximity Read ↗

CRISPR-mediated <i>Stxbp1</i> gene activation ameliorates epileptic and aggressive phenotypes in <i>Stxbp1</i> -haploinsufficient miceSemantic proximity Read ↗

Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy.Semantic proximity Read ↗

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.Semantic proximity Read ↗

Phenotypic assessment of Stxbp1 haploinsufficiency reveals neurological disabilities in serotoninergic system.Semantic proximity Read ↗

Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons.Semantic proximity Read ↗

Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.Semantic proximity Read ↗

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