Table 3.
Candidate genes for mutation screening in hyperekplexia. Chromosomal locations were obtained from http://ncbi.nlm.nih.gov/
| Candidate gene | Location | Protein | Proposed role at glycinergic synapse |
|---|---|---|---|
| SLC6A9 | 1p34.1 | GlyT1 | Termination of glycinergic neurotransmission by uptake into glial cells |
| SLC32A1 | 20q11.23 | VIAAT | Vesicular transport of GABA and glycine |
| SLC6A17 | 1p13.3 | NTT4 | Vesicular transport of glycine |
| DPYSL5 | 2p23.3 | ULIP6 | GlyT2 interacting protein |
| SDCBP | 8q12.1 | Syntenin-1 | GlyT2 interacting protein |