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

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

9 Sept 2016

Abstract excerpt

OBJECTIVE: To identify the molecular basis of a fatal syndrome of microcephaly, cortical hyperexcitability, and myasthenia. METHODS: We performed clinical and in vitro microelectrode studies of neuromuscular transmission, examined neuromuscular junctions cytochemically and by electron microscopy (EM), and searched for mutations by Sanger and exome sequencing. RESULTS: Neuromuscular transmission was severely...

Read the complete abstract on PubMed

Topics

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

Share to Cellular transport and secretion
Share to Genetic Neurodegenerative Diseases
Share to Glycogen Storage Diseases and Myoclonus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 27648472
DOI: 10.1212/nxg.0000000000000105

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myastheniaPMID 27648472Read ↗

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability.Semantic proximity Read ↗

Novel congenital myasthenic syndromes associated with defects in quantal release.Semantic proximity Read ↗

Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndromeSemantic proximity Read ↗

The sodium leak channel NALCN is regulated by neuronal SNARE complex proteinsSemantic 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 ↗

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

Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic developmentSemantic proximity Read ↗

Genetic and electrophysiological studies of Drosophila syntaxin-1A demonstrate its role in nonneuronal secretion and neurotransmission.Semantic proximity Read ↗

Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability.Semantic proximity Read ↗

Current understanding of congenital myasthenic syndromes.Semantic proximity Read ↗

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.Semantic proximity Read ↗

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