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Article

Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.

Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2005

Coto Eliecer, Armenta Daniel, Espinosa Raúl, Argente Joaquín, Castro Mónica G, Alvarez Victoria

Abstract excerpt

Hyperekplexia is commonly familial and with dominant transmission. The gene involved, GLRA1, encodes the alpha1 subunit of the glycine receptor. We describe 3 affected children homozygous for a new mutation, R100H. Both parents were heterozygous carriers; while the father was healthy, the mother...

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Source

Identifiers

PMID: 16078201
DOI: 10.1002/mds.20637

Genes

GLRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16078201-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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