Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Early infantile epileptic encephalopathy with suppression bursts
0.360 GeneticVariation disease BEFREE We present a patient diagnosed with OS associated with a novel SCN2A mutation (c.408G > A, p.Met136lle; OMIM®: 182390) who had a complete resolution of seizures and EEG abnormalities with KD commenced at 39 days of age. 30415926 2019
Early infantile epileptic encephalopathy with suppression bursts
0.360 Biomarker disease BEFREE Pathogenic or likely pathogenic variants were found in the KCNQ2, STXBP1, SCN2A genes in Ohtahara syndrome. 30185235 2018
Early infantile epileptic encephalopathy with suppression bursts
0.360 GeneticVariation disease BEFREE SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS). 29625812 2018
Early infantile epileptic encephalopathy with suppression bursts
0.360 GeneticVariation disease BEFREE This is the first report of familial Ohtahara syndrome due to a germline mosaic SCN2A mutation. 24814476 2014
Early infantile epileptic encephalopathy with suppression bursts
0.360 GermlineCausalMutation disease ORPHANET In conclusion, we have identified a de novo SCN2A mutation as the etiology for Ohtahara syndrome in monozygotic twins associated with a unique dentate-olivary dysplasia in the deceased twin. 23550958 2013
Early infantile epileptic encephalopathy with suppression bursts
0.360 GeneticVariation disease BEFREE Our study confirmed that SCN2A mutations are an important genetic cause of OS. 23935176 2013
Early infantile epileptic encephalopathy with suppression bursts
0.360 GeneticVariation disease BEFREE In conclusion, we have identified a de novo SCN2A mutation as the etiology for Ohtahara syndrome in monozygotic twins associated with a unique dentate-olivary dysplasia in the deceased twin. 23550958 2013
Early infantile epileptic encephalopathy with suppression bursts
0.360 GermlineCausalMutation disease ORPHANET We found 14 novel SCN2A missense mutations in 15 patients: 9 of 67 OS cases (13.4%), 1 of 150 West syndrome cases (0.67%), and 5 of 111 with unclassified EOEEs (4.5%). 23935176 2013