SLC25A22, solute carrier family 25 member 22, 79751

N. diseases: 106; N. variants: 10
Disease: Early infantile epileptic encephalopathy with suppression bursts ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. 19780765 2009