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

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability.

Neurology - 9 Dec 2014

Shen Xin-Ming, Selcen Duygu, Brengman Joan, Engel Andrew G

Abstract excerpt

OBJECTIVE: To identify and characterize the molecular basis of a syndrome associated with myasthenia, cortical hyperexcitability, cerebellar ataxia, and intellectual disability. METHODS: We performed in vitro microelectrode studies of neuromuscular transmission, performed exome and Sanger sequencing, and analyzed functional consequences of the identified mutation in expression studies. RESULTS: Neuromuscular...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Brain Diseases
Share to Chlorocebus aethiops

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromaffin Cells

Share to Exocytosis

Share to SNARE Proteins

Share to Synaptic Vesicles

Share to Synaptosomal-Associated Protein 25

Source

Open in PubMed Open full text

Identifiers

PMID: 25381298
DOI: 10.1212/WNL.0000000000001079
PMCID: PMC4277673

Variants

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

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability.PMID 25381298Read ↗

SNAP25 disease mutations change the energy landscape for synaptic exocytosis due to aberrant SNARE interactions.Semantic proximity Read ↗

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myastheniaSemantic proximity Read ↗

A dominant mutation in <i>Snap25</i> causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouseSemantic proximity Read ↗

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

SNAP-25 disease variants affect synaptic transmission by destabilizing SNARE complexes within a multimeric SNARE ring.Semantic proximity Read ↗

SNAP25 disease mutations change the energy landscape for synaptic exocytosis due to aberrant SNARE interactionsSemantic proximity Read ↗

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.Semantic proximity Read ↗

<i>De novo</i> variants in <i>SNAP25</i> cause an early-onset developmental and epileptic encephalopathySemantic proximity Read ↗

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.Semantic proximity Read ↗

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.Semantic proximity Read ↗

Adaptive functions correlate with evoked neurotransmitter release in SYT1-associated neurodevelopmental disorderSemantic proximity Read ↗

Phosphomimetic mutation of Ser-187 of SNAP-25 increases both syntaxin binding and highly Ca2+-sensitive exocytosis.Semantic proximity Read ↗

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