GAD1, glutamate decarboxylase 1, 2571

N. diseases: 245; N. variants: 14
Disease: Congenital neurologic anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		0.010 GeneticVariation group BEFREE Using an experimental model with a phenotype similar to that of GA-I in humans-the Gcdh<sup>-/-</sup> mice under high lysine diet (Gcdh<sup>-/-</sup> -Lys)-we provide evidence that a reduction in cortical inhibition of Gcdh<sup>-/-</sup> -Lys mice, probably induced by GAD dysfunction, leads to hyperexcitability and increased slow oscillations associated with neurologic abnormalities in GA-I. 28762469 2017