The genetic and epigenetic basis of the pediatric epilepsies

May 2nd 2017
Versione stampabile

Venue: Edificio Povo 2, via Sommarive nr. 9, Povo (Tn) - Room B102
 At 2:00 p.m.

  • Gemma Louise Carvill - Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago

Epilepsy is one of the most common neurological disorders, with a lifetime incidence of 3%. The epileptic encephalopathies are the most severe of all the pediatric epilepsies. Patients typically present with refractory epilepsy with multiple seizure types, cognitive arrest or regression, and have a poor prognosis. De novo mutations have been increasingly recognized as causative for these disorders, mutations in over 50 genes have been described and a genetic diagnosis can be made in ~30-50% of patients. I will discuss the studies behind these genetic discoveries, but also present our work outside of the protein-coding regions of the genome, and the role of non-coding DNA in epilepsy. Finally, I will demonstrate how gene identification is driving our understanding of the biological mechanisms of epilepsy. Using iPSCs and genome editing we are creating genetic models of epilepsy, including the chromatin remodeler, CHD2 to examine how mutations in this gene alter gene expression and the epigenomic architecture during neuronal development.