| H00769 | |
| H number | H00769 |
| Name | Hyperekplexia; Startle disease |
| Description | Hyperekplexia, also known as startle disease, is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterized by neonatal hypertonia and an exaggerated startle reflex in response to acoustic or tactile stimuli. Genetic analysis has revealed mutations in genes for several postsynaptic proteins involved in orchestrating glycinergic neurotransmission, including the glycine receptor (GlyR) alpha1 and beta subunits. |
| Category | Nervous system disease |
| Network | - |
| Gene | (HKPX1) GLRA1 [HSA:2741] [KO:K05193] (HKPX2) GLRB [HSA:2743] [KO:K05196] (HKPX3) SLC6A5 [HSA:9152] [KO:K05038] (HKPX4) ATAD1 [HSA:84896] [KO:K22530] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD90.Y ICD-10: G25.8 MeSH: D016750 OMIM: 149400 614619 614618 618011 |
| Reference | PMID:18707791 AUTHORS Harvey RJ, Topf M, Harvey K, Rees MI TITLE The genetics of hyperekplexia: more than startle! JOURNAL Trends Genet 24:439-47 (2008) DOI:10.1016/j.tig.2008.06.005 PMID:20407582 AUTHORS Davies JS, Chung SK, Thomas RH, Robinson A, Hammond CL, Mullins JG, Carta E, Pearce BR, Harvey K, Harvey RJ, Rees MI TITLE The glycinergic system in human startle disease: a genetic screening approach. JOURNAL Front Mol Neurosci 3:8 (2010) DOI:10.3389/fnmol.2010.00008 |