| 1 | GLRA1, GLRB, GPHN, SLC6A5, STHE1, STHE2, STHE3, STHE4 |
| The genetics of hyperekplexia: more than startle! | |
| Harvey RJ, Topf M, Harvey K, Rees MI. | |
| Trends Genet 24(9):439-47. Epub 2008 Aug 15. 2008 | |
| 2 | GPHN, STHE2 |
| Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. | |
| Rees MI, Harvey K, Ward H, White JH, Evans L, Duguid IC, Hsu CC, Coleman SL, Miller J, Baer K, Waldvogel HJ, Gibbon F, Smart TG, Owen MJ, Harvey RJ, Snell RG. | |
| J Biol Chem 278(27):24688-96. Epub 2003 Apr 8. 2003 | |