Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
0.360 | Biomarker | disease | BEFREE | Pathogenic or likely pathogenic variants were found in the KCNQ2, STXBP1, SCN2A genes in Ohtahara syndrome. | 30185235 | 2018 | ||||
|
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 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | This is the first report of familial Ohtahara syndrome due to a germline mosaic SCN2A mutation. | 24814476 | 2014 | ||||
|
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 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | Our study confirmed that SCN2A mutations are an important genetic cause of OS. | 23935176 | 2013 | ||||
|
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 | ||||
|
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 |