GMPPB, GDP-mannose pyrophosphorylase B, 29925

N. diseases: 158; N. variants: 23
Disease: Epilepsy, Generalized ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.010 Biomarker disease BEFREE Thus, our work further confirms a role for GMPPB defects in alpha-dystroglycanopathy, and suggests that glycosylation may play a role in the neuronal membrane channels or networks involved in the physiology of generalized epilepsy syndromes. 24780531 2014