ena-STUDY-UNICAMP - BRAZIL-06-10-2021-09:18:20:987-2
Mosaicism in FCD
Focal cortical dysplasias (FCD) represent almost 75% of the group of Malformations of cortical development, about 20% of cases are submitted to surgery to remove the affected area, which causes epilepsy. Mosaic mutations in the mTOR pathway have already been described in FCD, but not much is known about the etiology of FCD.In order to contribute to the understanding of the etiology of FCD, we submitted patients with FCD for investigation of mutations in the mosaicism state using next-generation sequencing techniques. We sequenced genomic DNA from brain tissue resected from surgery and from peripheral blood of patients with FCD.We first performed panel sequencing of the mTOR/GATOR pathway with the SeqCap EZ Choice Library Kit (NimbleGen, Roche) on a Miseq, in 12 patients. And full exome deep sequencing (WES) with the Agilent SureSelect V9-post Kit on a Novaseq, with 1000x coverage, in 30 patients.
Focal cortical dysplasias (FCD) represent almost 75% of the group of Malformations of cortical development, about 20% of cases are submitted to surgery to remove the affected area, which causes epilepsy. Mosaic mutations in the mTOR pathway have already been described in FCD, but not much is known about the etiology of FCD.In order to contribute to the understanding of the etiology of FCD, we submitted patients with FCD for investigation of mutations in the mosaicism state using next-generation sequencing techniques. We sequenced genomic DNA from brain tissue resected from surgery and from peripheral blood of patients with FCD.We first performed panel sequencing of the mTOR/GATOR pathway with the SeqCap EZ Choice Library Kit (NimbleGen, Roche) on a Miseq, in 12 patients. And full exome deep sequencing (WES) with the Agilent SureSelect V9-post Kit on a Novaseq, with 1000x coverage, in 30 patients.