Disease: X-linked infantile spasms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.070 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
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.070 Biomarker disease BEFREE Pathogenic or likely pathogenic variants were found in the KCNQ2, STXBP1, SCN2A genes in Ohtahara syndrome. 30185235 2018
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.070 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
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.070 GeneticVariation disease BEFREE Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy. 27876397 2017
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.070 GeneticVariation disease BEFREE This is the first report of familial Ohtahara syndrome due to a germline mosaic SCN2A mutation. 24814476 2014
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.070 GeneticVariation disease BEFREE Our study confirmed that SCN2A mutations are an important genetic cause of OS. 23935176 2013
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.070 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