Article
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Nature genetics - 1 Jul 2006
Rees Mark I, Harvey Kirsten, Pearce Brian R, Chung Seo-Kyung, Duguid Ian C, Thomas Philip, Beatty Sarah, Graham Gail E, Armstrong Linlea, Shiang Rita, Abbott Kim J, Zuberi Sameer M, Stephenson John B P, Owen Michael J, Tijssen Marina A J, van den Maagdenberg Arn M J M, Smart Trevor G, Supplisson Stéphane, Harvey Robert J
Abstract excerpt
Hyperekplexia is a human neurological disorder characterized by an excessive startle response and is typically caused by missense and nonsense mutations in the gene encoding the inhibitory glycine receptor (GlyR) alpha1 subunit (GLRA1). Genetic heterogeneity has been confirmed in rare sporadic cases, with mutations affecting other postsynaptic glycinergic proteins including the GlyR beta subunit (GLRB), gephyrin...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.