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

Distinct phenotypes in zebrafish models of human startle disease.

Neurobiology of disease - 1 Dec 2013

Ganser Lisa R, Yan Qing, James Victoria M, Kozol Robert, Topf Maya, Harvey Robert J, Dallman Julia E

Abstract excerpt

Startle disease is an inherited neurological disorder that causes affected individuals to suffer noise- or touch-induced non-epileptic seizures, excessive muscle stiffness and neonatal apnea episodes. Mutations known to cause startle disease have been identified in glycine receptor subunit (GLRA1 and GLRB) and glycine transporter (SLC6A5) genes, which serve essential functions at glycinergic synapses. Despite the...

Read the complete abstract on PubMed

Topics

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

Share to Behavior, Animal
Share to Disease Models, Animal
Share to Morpholinos

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

Share to Phenotype

Share to Protein Subunits

Share to Receptors, Glycine

Share to Zebrafish

Share to Zebrafish Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 24029548
DOI: 10.1016/j.nbd.2013.09.002
PMCID: PMC3972633

Genes

GLRB
GLRA1

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

Distinct phenotypes in zebrafish models of human startle disease.PMID 24029548Read ↗

Zebrafish bandoneon mutants display behavioral defects due to a mutation in the glycine receptor beta-subunit.Semantic proximity Read ↗

The glycinergic system in human startle disease: a genetic screening approachSemantic proximity Read ↗

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.Semantic proximity Read ↗

Startle Disease: New Molecular Insights into an Old Neurological Disorder.Semantic proximity Read ↗

A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexiaSemantic proximity Read ↗

Functional recovery of glycine receptors in spastic murine model of startle disease.Semantic proximity Read ↗

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).Semantic proximity Read ↗

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.Semantic proximity Read ↗

Glycine receptor knock-in mice and hyperekplexia-like phenotypes: comparisons with the null mutant.Semantic proximity Read ↗

Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease.Semantic proximity Read ↗

Generation and characterization of a novel gne Knockout Model in ZebrafishSemantic proximity Read ↗

A forward genetic screen identifies Dolk as a regulator of startle magnitude through the potassium channel subunit Kv1.1Semantic proximity Read ↗

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