My lab aims at understanding the cellular and molecular underpinnings of neuropsychiatric symptoms and epilepsy resulting from alterations in cortical development. We have focused on a neurodevelopmental disorder Tuberous Sclerosis Complex (TSC). TSC is an autosomal dominant multisystem disorder occurring in 1/6,000 individuals with mutations in TSC1 or TSC2 leading to malformation of cortical development associated with seizures and worsening of cognitive and psychiatric deficits. The ultimate goal is to find treatments for preventing or rescuing the anatomical defects and associated symptoms.
Most of our work is performed in vivo using a combination of sophisticated tools including in utero electroporation combined with EEG recordings in adult mice, patch clamp electrophysiology, translating ribosome affinity purification followed by microarray, behavioral assessment, and the use of conditional system based on tamoxifen injections. Through these precise approaches, we have recently generated a novel murine model of focal cortical malformations that are associated with social deficits and can be generated with or without daily convulsive seizures. This model opens the door for uncovering the anatomical, biochemical, and electrophysiological defects associated with behavioral symptoms.