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Article

A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.

Journal of neural transmission (Vienna, Austria : 1996) - 1 Dec 2018

Milenkovic Ivan, Zimprich Alexander, Gencik Martin, Platho-Elwischger Kirsten, Seidel Stefan

Abstract excerpt

We present a family with two members affected by hyperekplexia and two unaffected members. All exons in the glycine receptor alpha 1 subunit gene (GLRA1) were sequenced in all four family members. Our index patient harbored a novel nonsense mutation (p.Trp314*; rs867618642) in the transmembrane domain three of the GLRA1 and a novel missense variant in the NH2-terminal part (p.Val67Met; rs142888296). After...

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Identifiers

PMID: 30182260
DOI: 10.1007/s00702-018-1924-y

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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.

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