| H00996 | |
| H番号 | H00996 |
| 名称 | アーミッシュ小児てんかん症候群 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | ST3GAL5 [HSA:8869] [KO:K03370] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C54.Y ICD-10: E77.8 MeSH: C563799 OMIM: 609056 |
| 文献 | PMID:15502825 著者 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 タイトル Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. 雑誌 Nat Genet 36:1225-9 (2004) DOI:10.1038/ng1460 |