Article
A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking.
European journal of human genetics : EJHG - 1 Mar 2002
Humeny Andreas, Bonk Thomas, Becker Kristina, Jafari-Boroujerdi Mehrdad, Stephani Ulrich, Reuter Klaus, Becker Cord-Michael
Abstract excerpt
Hyperekplexia or startle disease (stiff baby syndrome, STHE) is a hereditary neurological disorder characterised by an exaggerated startle response and infantile muscle hypertonia. Several autosomal dominant and recessive forms of the disorder have been associated with point mutations in GLRA1, the human gene encoding the alpha 1 subunit of the inhibitory glycine receptor. Here, we describe a recessive point...
Topics
- Base Sequence
- Cell Line
- Child
- DNA
- DNA Mutational Analysis
- Electrophysiology
- Exons
- Family Health
- Fathers
- Female
- Genotype
- Humans
- Male
- Molecular Sequence Data