Epilepsy with suppression burst pattern / Our work
Our strategy for this project is summarized in the figure below. We are excluding all cases with abnormal MRI or abnormal metabolic assessment. If the MRI reveals a defect of cortical organization, the case can still be included into our project on the genetic basis of cortical development.
On the cases with a normal MRI and normal metabolic parameters, we start by screening the ARX, MUNC18-1 and GC1 genes for mutations. If these analysis are normal, we proceed to high resolution comparative genomic hybridization (244K arrays) in search for inframicroscopic chromosomal rearrangements. If this analysis is normal, we use the patient's DNA on custom arrays that we have had manufactured for the project. These custom arrays can analyze many genes involved in different neuronal processes, including neurotransmission. Thanks to the technology used, we are able to detect a few base pairs defects inside exons. If this analysis is negative, we keep the biological sample for additional research projects.
If we identify a mutation in a gene or a small chromosomal rearrangement, we are studying the segregation of this anomaly in the family of the patient. We do not study inherited variants.
We have already identified mutations and de novo microscopic chromosomal rearrangements in the available cohort. These cases are currently being studied in more detail.
