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Article

Hyperekplexia: a treatable neurogenetic disease.

Brain & development - 1 Oct 2002

Zhou Lan, Chillag Kipp L, Nigro Michael A

Abstract excerpt

Hyperekplexia is primarily an autosomal dominant disease characterized by exaggerated startle reflex and neonatal hypertonia. It can be associated with, if untreated, sudden infant death from apnea or aspiration pneumonia and serious injuries and loss of ambulation from frequent falls. Different mutations in the alpha1 subunit of inhibitory glycine receptor (GLRA1) gene have been identified in many affected...

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

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Source

Identifiers

PMID: 12427512
DOI: 10.1016/s0387-7604(02)00095-5

Genes

GLRA1
GLRB

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.

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Hyperekplexia: a treatable neurogenetic disease.PMID 12427512Read ↗

Hyperekplexia: abnormal startle response due to glycine receptor mutations.Semantic proximity Read ↗

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Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.Semantic proximity Read ↗

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

Glycine receptor mouse mutants: model systems for human hyperekplexia.Semantic proximity Read ↗

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

C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report.Semantic proximity Read ↗

The impact of human hyperekplexia mutations on glycine receptor structure and function.Semantic proximity Read ↗

A 14-year-old girl with hyperekplexia having GLRB mutations.Semantic proximity Read ↗

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The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor.Semantic proximity Read ↗

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