Molecular mechanism of focal cortical dysplasia
| 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 |
The data cannot be downloaded as it has not yet been registered in the Human Genetic Resource Management Platform of MOST.
| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX001259-60-01 | Raw data | 26 | DNA Methylation | 175.8 MB | zip | 0 | Unavailable |