| H01775 | |
| H番号 | H01775 |
| 名称 | PCDH19 関連症候群; 早期乳児てんかん性脳症９型 |
| 概要 | PCDH19-related epilepsy syndrome is a disorder characterized by the recurrence of seizures during infancy, which is often combined with intellectual disability or autistic features manifested exclusively in females. This disorder, first reported as epilepsy and mental retardation limited to females (EMFR) and recently renamed early infantile epileptic encephalopathy 9 (EIEE9). It was transmitted via asymptomatic males, suggesting an unusual X-linked inheritance with selective involvement of females. Mutations in the X-chromosome-encoded protocadherin 19 (PCDH19) cause this disorder, and are confirmatory for the diagnosis. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | PCDH19 [HSA:57526] [KO:K16499] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H00606 Ohtahara syndrome. |
| リンク | ICD-11: 8A61.1Y ICD-10: G40.3 MeSH: C564715 OMIM: 300088 |
| 文献 | PMID:22949144 著者 Terracciano A, Specchio N, Darra F, Sferra A, Bernardina BD, Vigevano F, Bertini E タイトル Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR. 雑誌 Neurogenetics 13:341-5 (2012) DOI:10.1007/s10048-012-0342-9 PMID:22267240 著者 Depienne C, LeGuern E タイトル PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 雑誌 Hum Mutat 33:627-34 (2012) DOI:10.1002/humu.22029 |