Forkhead. In our Epilepsiome series we are reviewing all major epilepsy genes. This week, we discuss FOXG1, a gene previously described as the cause for a congenital variant of Rett Syndrome. However, since its initial discovery in 2008, a much broader spectrum has been recognized. FOXG1 syndrome typically includes developmental delay and microcephaly. Many patients have severe, early-onset epilepsy and a prominent hyperkinetic movement disorder. In addition, some patients have brain malformations. Here is a brief introduction to our Epilepsiome review of FOXG1, an epilepsy gene that stands out from other causes of genetic epilepsies given its prominent role in forebrain development.
Issue 7/2015. I am realizing that we are a little behind with our weekly paper review and I hope that we can use the month of July to catch up. Our publications of the week include functional studies on CDKL5 targets that may suggest future therapy development, the recessive/de novo paradox of KIF1A and an attempt to understand the genetics of familial cortical tremor. Continue reading