Disease: Acute encephalopathy with biphasic seizures and late reduced diffusion ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4707658
Disease: Acute encephalopathy with biphasic seizures and late reduced diffusion
Acute encephalopathy with biphasic seizures and late reduced diffusion 		0.020 GeneticVariation disease BEFREE Genetically, 14 patients had at least one of the following polymorphisms or mutations associated with AESD: thermolabile variation of the carnitine palmitoyltransferase 2 (CPT2) gene, polymorphism causing high expression of the adenosine receptor A2A (ADORA2A) gene, and heterozygous missense mutation of the voltage gated sodium channel 1A (SCN1A) and 2A (SCN2A) gene. 25156649 2015
CUI: C4707658
Disease: Acute encephalopathy with biphasic seizures and late reduced diffusion
Acute encephalopathy with biphasic seizures and late reduced diffusion 		0.020 Biomarker disease BEFREE Here we studied whether mutations in genes encoding sodium channels, SCN1A and SCN2A, predispose children to AESD. 26311622 2015