SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 AlteredExpression disease BEFREE Overexpression of human EIEE5 mutant SPTAN1 in embryonic rat forebrain and mouse hippocampal neurons led to similar developmental defects that were also observed in EIEE5 patient-derived neurons. 29337302 2018
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 Biomarker disease GENOMICS_ENGLAND Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 20493457 2010
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 CausalMutation disease CLINVAR
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 Biomarker disease CTD_human
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 GeneticVariation disease CLINVAR