Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 GeneticVariation group BEFREE Here, we evaluated a missense mutation in <i>GRIN2B</i>, causing a proline-to-threonine switch (P553T) in the GluN2B subunit of NMDAR, which was found in a 5-year-old patient with Rett-like syndrome with severe encephalopathy. 31213567 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 GeneticVariation group BEFREE Here we report a case study of a 4-year-old Rett-like patient with severe encephalopathy carrying a missense de novo mutation in GRIN2B(p.P553T) coding for the GluN2B subunit of NMDAR. 28734458 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 GeneticVariation group BEFREE Consequently, our data suggest that radiprodil may be a valuable therapeutic option for treatment of pediatric epileptic encephalopathies associated with GRIN2B mutations. 28533163 2017