| Phenotype: | Hyperekplexia, hereditary 1, autosomal dominant or recessive |
|---|---|
| Dna Change: | 170-kb deletion |
| Protein Change: | |
| Mutation Type: | Deletion |
| Mutation Effect: | |
| Location: | exons 1 to 7 |
| Transcript: | NM_001146040.1 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Turkey | Kurdish | NA | 2 families | NA | Sirén A et al., 2006Sirén A, Legros B, Chahine L, Misson JP, Pandolfo M, . Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.. Neurology. 2006; 67(1):137-9 |
Sirén A, Legros B, Chahine L, Misson JP, Pandolfo M, Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.Neurology. 2006; 67(1):137-9