| Title |
Molecular mechanism of focal cortical dysplasia |
| Description |
Focal Cortical Dysplasia (FCD) is a frequent cause of drug-resistant focal epilepsy in children and young adults. The international FCD classification of 2011 has identified several clinico-pathological subtypes, either occurring isolated, i.e. FCD I or II, or in association with a principal cortical lesion, i.e. FCD III. FCD ILAE Type IIb is the most common FCD subtype and brain somatic mutations in mTOR pathway associated genes play a major pathogenic role. Herein, the aim of this study is (i) to comprehensively describe the genotype-phenotype association in twenty patients with histopathologically confirmed FCDIIb using NGS of paired blood-brain samples; (ii) we addressed for the first time the DNA methylation signature of a previously described new subtype of FCD IIId microscopically characterized by loss of cortical layer 4 in order to define their position in the molecular landscape of common FCD subtypes. These studies may also help to elucidate epileptogenic molecular mechanism of FCD. |
| Organism |
Homo sapiens |
| Data Type |
DNA Methylation |
| Data Accessibility |
Controlled-access |
| BioProject |
PRJCA009245 |
| Release Date |
2023-08-23 |
| Submitter |
Yueshan Piao (yueshanpiao@126.com) |
| Organization |
Xuanwu Hospital, Capital Medical University, Beijing, China |
| Submission Date |
2022-06-19 |