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

doi:10.1074/jbc.M112.372094

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

Community

Back to search

Article

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

The Journal of biological chemistry - 17 Aug 2012

Carta Eloisa, Chung Seo-Kyung, James Victoria M, Robinson Angela, Gill Jennifer L, Remy Nathalie, Vanbellinghen Jean-François, Drew Cheney J G, Cagdas Sophie, Cameron Duncan, Cowan Frances M, Del Toro Mireria, Graham Gail E, Manzur Adnan Y, Masri Amira, Rivera Serge, Scalais Emmanuel, Shiang Rita, Sinclair Kate, Stuart Catriona A, Tijssen Marina A J, Wise Grahame, Zuberi Sameer M, Harvey Kirsten, Pearce Brian R, Topf Maya, Thomas Rhys H, Supplisson Stéphane, Rees Mark I, Harvey Robert J

Abstract excerpt

Hereditary hyperekplexia or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, leading to hypertonia and apnea episodes. Missense, nonsense, frameshift, splice site mutations, and large deletions in the human glycine receptor α1 subunit gene (GLRA1) are the major known cause of this disorder. However, mutations are also found in the genes encoding the...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycine

Share to Homozygote

Share to Ion Transport

Share to Nerve Tissue Proteins

Share to Neurodegenerative Diseases

Share to Receptors, Glycine

Share to Xenopus laevis

Source

Open in PubMed Open full text

Identifiers

PMID: 22700964
DOI: 10.1074/jbc.M112.372094
PMCID: PMC3436555

Genes

GLRA1
GLRB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.PMID 22700964Read ↗

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

Hyperekplexia-associated mutations in the neuronal glycine transporter 2.Semantic proximity Read ↗

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

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

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.Semantic proximity Read ↗

Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.Semantic proximity Read ↗

Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.Semantic proximity Read ↗

GLRB is the third major gene of effect in hyperekplexia.Semantic proximity Read ↗

A critical role for glycine transporters in hyperexcitability disordersSemantic proximity Read ↗

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

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

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.Semantic proximity Read ↗

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