Seizures in DYRK1A

Epilepsy Awareness Month - November


It is a good time to put a spot light on seizures in relation to DYRK1A Syndrome, since it's Epilepsy Awareness Month.

Just this month this research article was published "Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities". In this study they found mutations in 46 patients, in only 24 of the 300 genes they were looking at and 2 of those 46 patients had mutations in the DYRK1A gene. This article from 2012 "The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy" identifies a patient with a causative mutation in the DYRK1A gene causing microcephaly and epilepsy

In our little community 15 out 25 reported febrile seizures and 13 out of 25 reported seizures. So seizures appear to be a prevalent symptom of having a disrupted DYRK1A gene.

Learn more about Seizures and Epilepsy on WebMD.