Neuronal excitability and copy number variation disorders

Genetic copy number variations (CNVs) play a causative role in neurodevelopmental disorders, increasing their risk by up to 30-fold. Although the biological effects of CNVs are not fully understood, we show that they produce abnormal excitability in neurons and circuits. We will use mouse and human cells to study the biological effects of a specific CNV on chromosome 16 and repurpose current anticancer and antiepilepsy drugs in an attempt to reverse the excitatory/inhibitory imbalance in human neurons with this CNV.