Disease: Epileptic Syndromes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.090 GeneticVariation disease BEFREE Variants in the SCN2A gene cause a broad spectrum of epilepsy syndromes of variable severity including benign neonatal-infantile epilepsy (BFNIE), developmental and epileptic encephalopathies (DEE), and other neuropsychiatric disorders. 30144217 2018
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.090 GeneticVariation disease BEFREE Voltage-gated sodium channel alpha subunit 2 (SCN2A) gene mutations are associated with neonatal seizures and a wide range of epilepsy syndromes. 30361185 2018
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.090 GeneticVariation disease BEFREE SCN2A mutations are associated with epileptic syndromes from benign to extremely severe in absence of such macroscopic brain findings. 28254201 2017
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.090 GeneticVariation disease BEFREE Mutations in the SCN2A gene cause different epilepsy syndromes, including epilepsy of infancy with migrating focal seizures, Ohtahara syndrome, and West syndrome. 28709814 2017
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.090 GeneticVariation disease BEFREE Mutations in SCN2A cause epilepsy syndromes of variable severity including neonatal-infantile seizures. 26645390 2016
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.090 GeneticVariation disease BEFREE Mutations in SCN2A, which encodes the Na(+) channel Nav1.2, cause epilepsy syndromes and predispose children to acute encephalopathy. 25457084 2015
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.090 GeneticVariation disease BEFREE Mutations in SCN2A gene cause a variety of epilepsy syndromes. 23550958 2013
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.090 GeneticVariation disease BEFREE Mutations of the neuronal voltage-gated sodium channel alpha subunit type II (SCN2A) cause various epileptic syndromes, but have never been reported in association with acute encephalopathy. 22591750 2012
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.090 Biomarker disease BEFREE SCN2A is another important subtype associated with epilepsy syndromes, across a range of severe and less severe epilepsies. 22905747 2012