Ontology highlight
ABSTRACT:
SUBMITTER: Chung SK
PROVIDER: S-EPMC6632444 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
Chung Seo-Kyung SK Vanbellinghen Jean-François JF Mullins Jonathan G L JG Robinson Angela A Hantke Janina J Hammond Carrie L CL Gilbert Daniel F DF Freilinger Michael M Ryan Monique M Kruer Michael C MC Masri Amira A Gurses Candan C Ferrie Colin C Harvey Kirsten K Shiang Rita R Christodoulou John J Andermann Frederick F Andermann Eva E Thomas Rhys H RH Harvey Robert J RJ Lynch Joseph W JW Rees Mark I MI
The Journal of neuroscience : the official journal of the Society for Neuroscience 20100701 28
Hyperekplexia is a rare, but potentially fatal, neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden, unexpected auditory or tactile stimuli. This disorder is primarily caused by inherited mutations in the genes encoding the glycine receptor (GlyR) alpha1 subunit (GLRA1) and the presynaptic glycine transporter GlyT2 (SLC6A5). In this study, systematic DNA sequencing of GLRA1 in 88 new unrelated human hyperekplexia patients revealed 19 sequence va ...[more]