Gene expression analysis in human focal cortical dysplasia and tuberous sclerosis

Focal cortical dysplasia (FCD), a focal brain malformation, is the most common cause of intractable epilepsy. One of the related disorders is tuberous sclerosis (TS). The dysplasia appears to result from a defect in cortical development, however, this disorder is heterogeneous, and FCD seizure therapy is non-specific and failure-prone. As a final recourse, patients may undergo multiple surgical resections to control seizures. Thus, there is a clinical need to characterize this disorder with respect to structural, molecular, and electrophysiological profiles, which will lead to development of animal models and pilot therapies that we will then apply to humans. Total RNA obtained from brain epilepsy surgical isolate from 5 patients with Focal Cortical Dysplasia (FCD) and 3 patients with Tuberous Sclerosis (TS) compared to 3 normal brain tissue controls. Gene expression profiling was performed using Illumina bead array technology and HumanHT-12_v.4 chips.