Disease: Landau-Kleffner Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome 		0.640 GeneticVariation disease BEFREE Heterozygous GRIN2A mutations were detected in four patients (G760S, D1385Y, C455Y and C231R) GRIN2A mutation was found in 11.1% (1 out of 9 cases) of LKS, and in 7.1% (3 out of 42 cases) of ABPE, but in none with ECSWS and BECTS. 29056244 2018
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome 		0.640 GeneticVariation disease BEFREE We identified a de novo missense mutation in the GRIN2A gene in a patient with childhood focal epilepsy and acquired epileptic aphasia. 28182669 2017
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome 		0.640 GeneticVariation disease BEFREE We conclude that immunotherapy should be considered as a therapeutic option in patients with LKS who are also found to harbour GRIN2A mutations. 26806548 2016
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome 		0.640 Biomarker disease CTD_human Acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and continuous spike and waves during slow-wave sleep syndrome (CSWSS) represent rare and closely related childhood focal epileptic encephalopathies of unknown etiology. 23933820 2013
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome 		0.640 GeneticVariation disease BEFREE GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 23933820 2013
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome 		0.640 GermlineCausalMutation disease ORPHANET GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 23933818 2013
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome 		0.640 GermlineCausalMutation disease ORPHANET Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 23933819 2013
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome 		0.640 GermlineCausalMutation disease ORPHANET Acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and continuous spike and waves during slow-wave sleep syndrome (CSWSS) represent rare and closely related childhood focal epileptic encephalopathies of unknown etiology. 23933820 2013
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome 		0.640 Biomarker disease GENOMICS_ENGLAND
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome 		0.640 Biomarker disease GENOMICS_ENGLAND