Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor.

doi:10.1093/hmg/3.12.2175

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Article

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor.

Human molecular genetics - 1 Dec 1994

Rees M I, Andrew M, Jawad S, Owen M J

Abstract excerpt

Startle disease, or hyperekplexia, is characterized by an exaggerated startle reflex and neonatal hypertonia. An autosomal dominant form of the disorder is associated with mutations in the same codon of the alpha 1 subunit of the inhibitory glycine receptor (GLRA 1) resulting in the substitution of an uncharged amino acid for Arg271 in the mature protein. However, recessive transmission is seen in the mouse...

Topics

Adult
Alleles
Base Sequence
Chromosomes, Human, Pair 5
Female
Genes, Dominant
Genes, Recessive
Genes, Regulator
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle Rigidity

Pedigree

Point Mutation

Polymorphism, Single-Stranded Conformational

Receptors, Glycine

Reflex, Abnormal

Source

Open in PubMed

Identifiers

PMID: 7881416
DOI: 10.1093/hmg/3.12.2175

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7881416-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor.PMID 7881416Read ↗

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