PCHD19 Genetic Mutation and Epilepsy

By: Andrew Yee PCHD19 Epilepsy PCHD19-epilepsy is a type of epilepsy caused by a mutation of the PCDH19 gene on the X chromosome. The PCDH19 gene results in epilepsy by encoding the protein protocadherin 19. PCDH19-epilepsy begins in the first year of life and mainly affects girls. Boys may also be affected, but it is […]

CDKL5 Genetic Mutation and Epilepsy

By: Andrew Yee What Is The CDKL5 Gene? The CDKL5 gene is most active in the brain and codes for a protein found in cells and body tissues. The CDKL5 gene is essential for normal brain development and functioning. The protein that is produced by the gene has five different versions. Studies have shown that […]