Table 4.
Summary of pathological and genetic data of epilepsy‐related sudden unexpected death cases. Abbreviations: BW, brain weight; HW, heart weight; LQT, long QT interval; SUDEP, sudden unexpected death in epilepsy; ND, not detected; F, focal epilepsy; HS, hippocampal sclerosis; FaRV, fatty replacement of right ventricle; G, generalized epilepsy; del, deletion; H‐Tb, hypertrabeculation; f‐CS, fibrosis of conduction system; ASD, atrial septal defect; RVH, right ventricular hypertrophy; LVH, left ventricular hypertrophy; OCI, old cerebral infarction. Genes in bold‐type indicate high possible pathogenicity.
| Neuropathology | Cardiac pathology | Genetic | |||||||
|---|---|---|---|---|---|---|---|---|---|
| BW | Findings | HW | Findings | Known | Classification | ||||
| Case | (g) | (g) | LQT | Common | Rare | Potential |
(seizure/cause) |
||
| SUDEP | |||||||||
| 1 | 1180 | HS | 300 | ND | F/HS | ||||
| 2 | 1208 | HS | 410 | FaRV | SCN5A, DSC2 (del)* | F/HS | |||
| 3 | 1429 | ND | 250 | H‐Tb, f‐CS | LDB3 | MYH6 | G/unknown | ||
| 4 | 1260 | ND | 288 | ASD, RVH | + | F/unknown | |||
| 5 | 1592 | ND | 525 | LVH, FaRV | DSC2 (del)* | DSP | G/unknown | ||
| 6 | 1148 | HS | 325 | FaRV | + | KCNE1 | DSC2 | DSG2 | F/HS |
| 7 | 1272 | HS | 439 | LVH | SCN5A | MYBPC3 | F/HS | ||
| 8 | 1576 | ND | 344 | ND | G/unknown | ||||
| 9 | 1506 | Old injury | 287 | ND | DMD | F/trauma | |||
| Drowning | |||||||||
| 10 | 1216 | HS | 176 | ND | F/HS | ||||
| 11 | 1329 | OCI | 419 | LVH | + | ANK2x2 | F/stroke | ||
| 12 | 1600 | ND | 425 | LVH | SCN5A | G/unknown | |||
*The pathogenicity of DSC2 (del) could not be estimated.