| H01514 | |
| H number | H01514 |
| Name | Landau-Kleffner syndrome |
| Description | 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. |
| Category | Nervous system disease |
| Network | nt06528(H01514) Calcium signaling |
| Gene | GRIN2A [HSA:2903] [KO:K05209] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A62.2 ICD-10: F80.3 MeSH: D018887 OMIM: 245570 |
| Reference | PMID:26627294 AUTHORS Tuft M, Arva M, Bjornvold M, Wilson JA, Nakken KO TITLE Landau-Kleffner syndrome. JOURNAL Tidsskr Nor Laegeforen 135:2061-4 (2015) DOI:10.4045/tidsskr.15.0162 PMID:20637551 AUTHORS Deonna T, Roulet-Perez E TITLE Early-onset acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and regressive autistic disorders with epileptic EEG abnormalities: the continuing debate. JOURNAL Brain Dev 32:746-52 (2010) DOI:10.1016/j.braindev.2010.06.011 PMID:24828792 AUTHORS 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 TITLE Towards the identification of a genetic basis for Landau-Kleffner syndrome. JOURNAL Epilepsia 55:858-65 (2014) DOI:10.1111/epi.12645 PMID:19682046 AUTHORS Rudolf G, Valenti MP, Hirsch E, Szepetowski P TITLE From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors. JOURNAL Epilepsia 50 Suppl 7:25-8 (2009) DOI:10.1111/j.1528-1167.2009.02214.x PMID:21887181 AUTHORS Bhardwaj P, Sharma VK, Sharma R, Gautam P TITLE Acquired epileptic aphasia: Landau-Kleffner syndrome. JOURNAL J Pediatr Neurosci 4:52-3 (2009) DOI:10.4103/1817-1745.49114 PMID:9118856 AUTHORS Fayad MN, Choueiri R, Mikati M TITLE Landau-Kleffner syndrome: consistent response to repeated intravenous gamma-globulin doses: a case report. JOURNAL Epilepsia 38:489-94 (1997) DOI:10.1111/j.1528-1157.1997.tb01740.x |