We are focused on understanding the genes and mechanisms underlying
epilepsy and sudden unexpected death in epilepsy (SUDEP). Epilepsy is
the 4th most common neurological disorder affecting about 1 in 26
Americans during their lifetime. Epilepsy is characterized by the
presence of recurrent unprovoked seizures due to abnormal electrical
activity in the brain. Genetics and heredity play an important role in
the development of epilepsy. One of the goals of the lab is to identify
the genes and combinations of genes that determine whether an individual
will develop epilepsy.
Map of KCNA1 gene mutations associated with epilepsy and other human diseases. (from Paulhus et al, Int J Mol Sci 2020, 21:2802)