| Accession |
PRJCA009245 |
| Title |
Molecular mechanism of focal cortical dysplasia |
| Relevance |
Medical |
| Data types |
Epigenomics
Targeted Locus (Loci)
|
| Organisms |
Homo sapiens
|
| 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 Next Generation Sequencing (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. |
| Sample scope |
Multiisolate |
| Release date |
2023-08-23 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
|
|
Single-cell transcriptomics reveals early molecular and immune alterations underlying the serrated neoplasia pathway toward colorectal cancer
|
Cellular and Molecular Gastroenterology and Hepatology
|
10.1016/j.jcmgh.2022.10.001
|
2022
|
| 37559109
|
The specific DNA methylation landscape in focal cortical dysplasia ILAE type 3D
|
Acta Neuropathologica Communications
|
10.1186/s40478-023-01618-6
|
2023
|
|
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| No funding support
|
|
|
|
|
|
| Submitter |
Yueshan
Piao (yueshanpiao@126.com)
|
| Organization |
Xuanwu Hospital, Capital Medical University, Beijing, China |
| Submission date |
2022-04-21 |
