H00996 | |
H number | H00996 |
Name | Amish infantile epilepsy syndrome |
Description | Amish infantile epilepsy syndrome is an autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness. A mutation in SIAT9, which is predicted to result in the premature termination of the GM3 synthase enzyme, has been identified. |
Category | Inherited metabolic disorder |
Network | - |
Gene | ST3GAL5 [HSA:8869] [KO:K03370] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C54.Y ICD-10: E77.8 MeSH: C563799 OMIM: 609056 |
Reference | PMID:15502825 AUTHORS Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH TITLE Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. JOURNAL Nat Genet 36:1225-9 (2004) DOI:10.1038/ng1460 |