Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation

This report of familial recurrence, with suspected germline mosaicism in a healthy parent, has important consequences for genetic counseling. Although it is not possible to predict an exact recurrence risk, it is likely to be increased.

Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Hagebeuk, E. E. O., Marcelis, C. L., Alders, M., Kaspers, A., de Weerd, A. W. Tags: Original Articles Source Type: research