Mice in which GlyT2 has been deleted develop a fatal hyperekplexia phenotype during the second postnatal week [http://www.ncbi.nlm.nih.gov/pubmed/14622583?dopt=AbstractPlus] and mutations in the human gene encoding GlyT2 (SLC6A5) have been identified in patients with hyperekplexia (reviewed by [http://www.ncbi.nlm.nih.gov/pubmed/18707791?dopt=AbstractPlus]). The gene discussed is SLC6A5; the disease is hyperekplexia.