Table 6.
Potential rare variants in the epilepsy‐related sudden unexpected death cases. Abbreviations: MAF, minor allele frequency; ExAC, Exome Aggregation Consortium database; AFR, African/African American; AMR, Latino; EAS, East Asian; FIN, Finnish; NFE, Non‐Finnish European; SAS, South Asian; OTH, Other; Path, possible pathogenicity; LQTS, long QT syndrome; DCM, dilated cardiomyopathy; ARVC, arrhythmogenic right ventricular cardiomyopathy; SVAS, supravalvular aortic stenosis; HCM, hypertrophic cardiomyopathy; ND, not described. Bold shows a MAF of the variants in EAS cohort in ExAC.
| Gene | Case | Transcript | Protein | dbSNP | Disease | MAF | Path | |
|---|---|---|---|---|---|---|---|---|
| ExAC | ||||||||
| MYH6 | 3 | NM_002471.3 | p.Ala822Thr | rs138419275 | DCM, HCM | ALL:A = 0.015% ‐ AFR:0% − AMR:0% − EAS:0.21% − SAS:0% − NFE:0% − FIN:0% − OTH:0% | High | |
| DSP | 5 | NM.004415.2 | p.Leu2628Pro | rs147484870 | ARVC | ALL:C = 0.013% − AFR:0% − AMR:0% − EAS:0.19% − SAS:0% − NFE:0% − FIN:0% − OTH:0% | High | |
| DSG2 | 6 | NM_001943.3 | p.Pro927Leu | rs146402368 | ARVC | ALL:T = 0.027% − AFR:0% − AMR:0% − EAS:0.37% − SAS:0% − NFE:0% − FIN:0% − OTH:0% | High | |
| DMD | 9 | NM_004006.2 | p.Arg395Gly | rs148511512 | DCM | ALL:A = 0.018% − AFR:0% − AMR:0% − EAS:0.24% − SAS:0% − NFE:0% − FIN:0% − OTH:0% | Int | |
| ANK2 | 11 | NM_001148.4 | p.Ser105Thr | ND | LQTS | − | Int | |
| ANK2 | 11 | NM_001148.4 | p.Glu1934Val | ND | LQTS | ALL:T = 0.00082% − AFR:0% − AMR:0.0086% − EAS:0% − SAS:0% − NFE:0% − FIN:0% − OTH:0% | Int |