title: Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease.
abstract: Startle disease affects newborn children and involves an exaggerated startle response and muscle hypertonia in response to acoustic or tactile stimuli. The primary cause of startle disease is defective inhibitory glycinergic transmission due to mutations in the postsynaptic glycine receptor (GlyR) α1 subunit gene (GLRA1). However, mutations have also been discovered in the genes encoding the GlyRβ subunit (GLRB) and the presynaptic glycine transporter GlyT2 (SLC6A5). GlyT2 mutations have also been detected in Belgian Blue cattle and Irish Wolfhounds, where they have significant economic and animal welfare impacts.
authors: Department of Pharmacology, The School of Pharmacy, London WC1N 1AX, UK.
authors: Victoria M
authors: VM
authors: James
authors: Jennifer L
authors: JL
authors: Gill
authors: Maya
authors: M
authors: Topf
authors: Robert J
authors: RJ
authors: Harvey
mesh_terms: D000818:Animals; D050487:Glycine Plasma Membrane Transport Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012021:Reflex, Abnormal / Q000235:genetics*
chemical_list: D050487:Glycine Plasma Membrane Transport Proteins; C493271:SLC6A5 protein, human