DNM1, dynamin 1, 1759

N. diseases: 114; N. variants: 19
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.300 Biomarker disease CLINGEN De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353 2016
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.300 Biomarker disease CLINGEN Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.300 Biomarker disease CLINGEN Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.300 Biomarker disease CLINGEN Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy. 26125563 2015
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.300 Biomarker disease CLINGEN Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis. 27066543 2015
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.300 Biomarker disease CLINGEN Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1. 25779878 2015
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.300 Biomarker disease CLINGEN De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.300 Biomarker disease CLINGEN De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.300 Biomarker disease CLINGEN A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. 20700442 2010
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.300 Biomarker disease CLINGEN Mutations in human dynamin block an intermediate stage in coated vesicle formation. 8101525 1993