| H01514 | |
| H番号 | H01514 |
| 名称 | ランドウ・クレフナー症候群 |
| 概要 | Landau-Kleffner syndrome (LKS) is an epileptic encephalopathy that usually manifests itself in children aged 3-8 years with previously normal development. All LKS patients have abnormal EEG that is compatible with the diagnosis of epilepsy, however, only 70% have clinical seizures. The main symptoms are acute or subacute aphasia with inability to recognise, process or interpret verbal and/or non-verbal sounds. Although the exact etiology of LKS remains unclear, families with mutations in the GRIN2A gene have been described, in which some members have LKS. Recent reports have implicated susceptibility genes (SRPX2, ELP4) to idiopathic focal epilepsies. |
| カテゴリ | 神経系疾患 |
| ネットワーク | nt06528(H01514) Calcium signaling |
| 病因遺伝子 | GRIN2A [HSA:2903] [KO:K05209] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A62.2 ICD-10: F80.3 MeSH: D018887 OMIM: 245570 |
| 文献 | PMID:26627294 著者 Tuft M, Arva M, Bjornvold M, Wilson JA, Nakken KO タイトル Landau-Kleffner syndrome. 雑誌 Tidsskr Nor Laegeforen 135:2061-4 (2015) DOI:10.4045/tidsskr.15.0162 PMID:20637551 著者 Deonna T, Roulet-Perez E タイトル Early-onset acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and regressive autistic disorders with epileptic EEG abnormalities: the continuing debate. 雑誌 Brain Dev 32:746-52 (2010) DOI:10.1016/j.braindev.2010.06.011 PMID:24828792 著者 Conroy J, McGettigan PA, McCreary D, Shah N, Collins K, Parry-Fielder B, Moran M, Hanrahan D, Deonna TW, Korff CM, Webb D, Ennis S, Lynch SA, King MD タイトル Towards the identification of a genetic basis for Landau-Kleffner syndrome. 雑誌 Epilepsia 55:858-65 (2014) DOI:10.1111/epi.12645 PMID:19682046 著者 Rudolf G, Valenti MP, Hirsch E, Szepetowski P タイトル From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors. 雑誌 Epilepsia 50 Suppl 7:25-8 (2009) DOI:10.1111/j.1528-1167.2009.02214.x PMID:21887181 著者 Bhardwaj P, Sharma VK, Sharma R, Gautam P タイトル Acquired epileptic aphasia: Landau-Kleffner syndrome. 雑誌 J Pediatr Neurosci 4:52-3 (2009) DOI:10.4103/1817-1745.49114 PMID:9118856 著者 Fayad MN, Choueiri R, Mikati M タイトル Landau-Kleffner syndrome: consistent response to repeated intravenous gamma-globulin doses: a case report. 雑誌 Epilepsia 38:489-94 (1997) DOI:10.1111/j.1528-1157.1997.tb01740.x |