Figure 4

Parental mosaicism contributes to the parents’ epileptic phenotypes. Epileptic phenotype data were collected from all family members by clinicians from Peking University First Hospital. (a) Of mosaic parents, 41% report having had an epileptic seizure. Parents with epileptic phenotypes were significantly more likely to be observed among parents with detectable mosaic mutations (odds ratio = 10.8, p = 3.0e-06 by a two-tailed Fisher’s exact test). (b) Among parents in the “de novo” families, 6% have previously had epileptic seizures. (c) No non-mosaic parents from mosaic families reported having had any epileptic seizures. (d) Among families with detected parental mosaicism, MAFs in the mosaic parents with epileptic phenotypes at any time in their lives were significantly higher than MAFs in epilepsy-free mosaic parents (p = 0.010 by a one-tailed Mann-Whitney U test with continuity correction).