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Article

A 14-year-old girl with hyperekplexia having GLRB mutations.

Brain & development - 1 Aug 2013

Mine Jun, Taketani Takeshi, Otsubo Shusuke, Kishi Kazuko, Yamaguchi Seiji

Abstract excerpt

Hyperekplexia manifests as generalized stiffness and an excessive startle reflex to stimuli. It starts in the neonatal period and is transmitted in many cases via autosomal dominant inheritance. The etiology is an abnormality of the glycinergic neurotransmission system that is involved in inhibitory neurotransmission. Aberrations of five genes related to this neurotransmission system have been identified. The...

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Source

Identifiers

PMID: 23182654
DOI: 10.1016/j.braindev.2012.10.013

Genes

GLRB

Variants

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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.

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Clinical and genetic investigation of 17 Japanese patients with hyperekplexiaSemantic proximity Read ↗

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