## Abstract Hyperekplexia is commonly familial and with dominant transmission. The gene involved, __GLRA1,__ encodes the ฮฑ1 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, t
A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene
โ Scribed by Evelien Zoons; Ieke B. Ginjaar; Paul A.D. Bouma; Johannes A. Carpay; Marina A.J. Tijssen
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 703 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## Abstract We report the identification of a novel Y228C mutation within the M1 transโmembrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree. ยฉ 2007 Movement Disorder Society
## Communicated by Henrik Dahl Approximately 80% of hereditary hearing loss is non-syndromic. Non-syndromic deafness is the most genetically heterogeneous trait. The most common and severe form of hereditary hearing impairment is autosomal recessive non-syndromic hearing loss (ARNSHL), accounting f
## Abstract Autosomal recessive spastic ataxia of CharlevoixโSaguenay (ARSACS) is an inherited neurodegenerative disorder characterized by earlyโonset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We repor