The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
Original research article by J.B. Courcet et al. (2012).
Read the abstract here.
Changes that disrupt DYRK1A have been previously seen in children with intellectual disability, absent or delayed language, microcephaly, and epilepsy. This study describes two new people who have smaller changes in DYRK1A but have features very similar to the children previously described. This suggests that changes in DYRK1A may cause a specific set of features that includes intellectual disability, a smaller than average head, delayed or slowed growth, and epilepsy. In addition, people with changes in this gene may have speech delay and subtle differences in the way the ear is shaped, often including an underdeveloped ear lobe.