Concepedia

Recessive hyperekplexia due to a new mutation (R100H) in the <i>GLRA1</i> gene

Eliécer Coto, Daniel Armenta, Raúl Espinosa, Victoria Álvarez

Movement Disorders · 2005 · 18 citations · 10 references

DOI

Concepts

Abstract

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 has periodic limb movements during sleep. This suggests that Hys-100 could exhibit incomplete penetrance, but was linked to a severe classical form of hyperekplexia in homozygous.

References

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