Anesthetic management of a parturient with hyperekplexia.
Boston, United States. In A A Case Rep, May 2015
In some cases, a mutation encoding the postsynaptic inhibitory glycine receptors (GLRA1, GLRB) or presynaptic glycine transporter (SLC6A5) resulting in abnormal glycinergic neurotransmission is present.
In Continuum (minneap Minn), 2013
Mutations in the glycine receptor (GlyR) α1-subunit gene (GLRA1) explain the major expression of hyperekplexia, an inherited excessive startle disorder, butnewly identified mutations in GlyR β-subunit (GLRB) and glycine transporter 2 (GlyT2) genes (SLC6A5) account for "minor" forms of this disorder manifested as excessive startle and hypnic jerks.
Seattle, United States. In Unknown Journal, 2007
GLRA1, encoding glycine receptor subunit α1, accounts for about 80% of HPX.
Amsterdam, Netherlands. In Lancet Neurol, 2006
This form has a genetic basis: mutations in the alpha1 subunit of the glycine receptor gene, GLRA1, or related genes.