New epilepsy publication from Amplexa Genetics
July 11, 2019
Together with our collaborators we have published interesting results about parental mosaicism in alleged de novo epilepsy cases.
The results are interesting because they show that between 5-10% of de novo epileptic encephalopathy cases actually are not de novo cases but transmitted from mosaic parents. The individual degree of mosaicism varies from 0.8% to as high as 28% the current study showed. Taken together, this knowledge is important and has implications for genetic counselling by allowing estimation of recurrence rate in cases where couples plan pregnancy .
The full version of the study can be read in the June issue of Epilepsia and reached by clicking the image