Summary Summary Short summary of a recent publication, written by scientific experts. Published: May 28, 2019

De novo variants in epilepsy – the link between parent and child

Takeaway

  • Identification of parental somatic mosaicism can help determine those at greater risk of passing on the pathogenic variant to their children.

Why this matters

  • Severe early onset epilepsy can be caused by de novo pathogenic variants – understanding the recurrence risk from parent to child can help guide genetic counselling.