Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.330 GeneticVariation group BEFREE SCN1A gene mutations are associated with epilepsy and neurodevelopmental disorders. 31009440 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.330 Biomarker group CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.330 Biomarker group BEFREE The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (CDKL5, GABRA1, GABRG2, GRIN2B, KCNQ2, MECP2, PCDH19, SCN1A, or SCN2A). 28837158 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.330 Biomarker group BEFREE The CNVs involved known disease genes (EHMT1, MBD5 and SCN1A) and imbalances in genomic regions associated with neurodevelopmental disorders (16p11.2, 16p13.11 and 2q13). 27113213 2016