Table 5

Literature summary of the candidate genes identification from previous studies

StudySample sizeMethodCandidate genes
Tu et al, 20117 22 definite SUDEP cases and 46 possible SUDEP casesAnalyse postmortem DNA samples in variants in KCNQ1, KCNH2 (HERG) and SCN5A KCNH2 and SCN5A
Tu et al, 20118 48 casesAnalyse postmortem DNA samples in variants in HCN1-4 HCN1-4
Leu et al, 20154 8 definite SUDEP cases and 10 probable SUDEP casesAnalyse variants from WES data of 18 people who died of SUDEP, 87 living people with epilepsy and 1479 non-epilepsy disease controls SCN1A, LGI1, SMC4, COL6A3 and TIE1
Coll et al, 201610 14 SUDEP casesPanel target resequencing SCN1A, SCN10A, SCN11A, CACNA1A, FBN1, HCN1, SCN4A, KCNQ1 and EFHC1
Bagnall et al, 201613 54 definite SUDEP cases, 5 probable SUDEP cases and 2 definite SUDEP plus casesExome sequencing and rare variant collapsing analysis KCNH2, KCNQ1, KCNQ2, SCN5A, RYR2, HCN4, DEPDC5, GABRB3, SCN1A, SCN2A, CHRNA4, SPTAN1 and PAFAH1B1
Hata et al, 20176 9 SUDEP casesUse NGS to examine 73 inherited heart disease-related genes LDB3, DSC2, KCNE1, MYH6, DSP and DSG2
Friedman et al, 20189 8 definite/probable SUDEP casesCompare WES data of 8 SUDEP cases with 7 non-SUDEP controls ARRB2, ITPR1, GABRR2, SSTR5, GRIK1, CTNAP2, GRM8, GNAI2, GRIK5, KCNMB1, KCNIP1, DPP6, JUP, F2 and TUBA3D
  • NGS, next generation sequencing; SUDEP, sudden unexpected death in epilepsy.