Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene
- 2 August 2005
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 20 (12) , 1626-1629
- https://doi.org/10.1002/mds.20637
Abstract
Hyperekplexia is commonly familial and with dominant transmission. The gene involved, GLRA1, encodes the α1 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. © 2005 Movement Disorder SocietyKeywords
This publication has 11 references indexed in Scilit:
- Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia familyNeurology, 2004
- Functional characterization of compound heterozygosity for GlyRα1 mutations in the startle disease hyperekplexiaEuropean Journal of Neuroscience, 2002
- A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor traffickingEuropean Journal of Human Genetics, 2002
- Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexiaHuman Genetics, 2001
- Opposing Effects of Molecular Volume and Charge at the Hyperekplexia Site α1(P250) Govern Glycine Receptor Activation and DesensitizationPublished by Elsevier ,2001
- Mutations in the glycine receptor α1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279CJournal of Medical Genetics, 2001
- Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α1 subunit of the inhibitory glycine receptorHuman Molecular Genetics, 1994
- A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouseNature Genetics, 1994
- Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexiaNature Genetics, 1993
- The inhibitory glycine receptor: A ligand‐gated chloride channel of the central nervous systemEuropean Journal of Biochemistry, 1990