Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy of infancy with migrating focal seizures
0.020 GeneticVariation disease BEFREE SCN2A mutations have been described in a very broad spectrum of clinical phenotypes including benign (familial) neonatal/infantile seizures and early infantile epileptic encephalopathies (EIEE) as Ohtahara syndrome (OS), Dravet syndrome (DS), epilepsy of infancy with migrating focal seizures and West syndrome (WS). 30415926 2019
Epilepsy of infancy with migrating focal seizures
0.020 Biomarker disease BEFREE Here, we show that SCN2A is the second most common cause of EIMFS and, importantly, does not always have a poor developmental outcome. 26291284 2015