|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
In conclusion, a novel p.W170S mutation in the extracellular ligand binding domain of glycine receptor α1 subunit was detected in patients with hyperekplexia and mild mental retardation.
|
22264702 |
2012 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Population studies reveal the unique association of each mutation with disease, and reveals that a proportion of sporadic hyperekplexia is accounted for by the homozygous inheritance of recessive GLRA1 mutations or as part of a compound heterozygote.
|
11702206 |
2001 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
The mutations in the glycine receptor α1 subunit (α1R271Q/L) which cause the neuromotor disorder hyperekplexia are on example of such allosteric mutations.In this issue of the BJP, Shan et al. show that normal function was restored to these mutant receptors by substitution of the segment which contained the mutated position, by a homologous one.
|
22122331 |
2012 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
In its familial form, hyperekplexia has been associated with both dominant and recessive mutations of the GLRA1 gene encoding the glycine receptor alpha1 subunit (GlyRalpha1), which mediates inhibitory transmission in the spinal cord and brainstem.
|
12169101 |
2002 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene?
|
29602144 |
2018 |
|
Hyperexplexia
|
0.700 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease.
|
1352015 |
1992 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
We describe a hyperekplexia family carrying the novel dominant missense allele GLRA1(S267N), that affects agonist responses and ethanol modulation of the mutant receptor.
|
18043720 |
2008 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Our findings contribute to a growing list GLRA1 mutations associated with hyperekplexia and provide new insights into correlations between phenotype and GLRA1 mutations.
|
28985719 |
2017 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Here we analyzed 68 new unrelated hyperekplexia probands for GLRA1 mutations and identified 19 mutations, of which 9 were novel.
|
24108130 |
2013 |
|
Hyperexplexia
|
0.700 |
Biomarker
|
phenotype |
MGD |
An exaggerated startle response caused by mutations of the alpha 1 subunit gene of the inhibitory glycine receptor (GLRA1) is the key symptom of human hyperekplexia or startle disease.
|
8733750 |
1996 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Dominant and recessive mutations have been identified in GLRA1 gene as pathogenic variants in many individuals with the familial form of Hyperekplexia and occasionally in simplex cases.
|
30866851 |
2019 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Hyperekplexia (MIM: 149400) is a neurological disorder characterized by an excessive startle response which can be caused by mutations in the alpha1-subunit (GLRA1) of the heteropentameric human inhibitory glycine receptor (hGlyR).
|
11929858 |
2002 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.
|
9920650 |
1999 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in this 'hot spot' domain of GLRA1 are frequent in autosomal dominant hyperekplexia but are not usually seen in the autosomal recessive form of the disease in which both the M1 and the carboxy terminal domains have been implicated.
|
14580232 |
2003 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia.
|
18175347 |
2008 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.
|
30182260 |
2018 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.
|
8651283 |
1996 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
However, we consider this unlikely as the depleted chloride gradient should also lead to pain sensitization and to a hyperekplexia phenotype that correlates with mutation severity, neither of which is observed in patients with GLRA1 hyperekplexia mutations.
|
27226610 |
2016 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Thus, the hyperekplexia phenotype of Glra1(D80A) mice is due to the loss of Zn(2+) potentiation of alpha1 subunit containing GlyRs, indicating that synaptic Zn(2+) is essential for proper in vivo functioning of glycinergic neurotransmission.
|
17114051 |
2006 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.
|
16078201 |
2005 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
The clinical diagnosis was subsequently revised to hyperekplexia and confirmed by mutation analysis of the GLRA1 gene, which showed c.497G>C (p.Cys166Ser) and c.526delG (p.Asp176Metfs*16).Both of them are novel mutations.
|
23143726 |
2014 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Ethnicity can predict GLRA1 genotypes in hyperekplexia.
|
24970905 |
2015 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking.
|
11973623 |
2002 |
|
Hyperexplexia
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia.
|
24198360 |
2013 |
|
Hyperexplexia
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam which is a strong clinical feature of GLRA1-mediated hyperekplexia.[Published with video sequences].
|
25036534 |
2014 |