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HRA002611
   HRA002611.xlsx
Title:
Molecular mechanism of focal cortical dysplasia
Release date:
2024-07-01
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.
Data Accessibility:   
Controlled access Request Data
BioProject:
PRJCA009245
Study type:
Disease Study
Disease name:
epilepsy syndrome
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
HDAC001321
DAC name:
XUAN WU pathology
Contact person:
Piao Yueshan
Email:
yueshanpiao@126.com
Description:
The neuropathological teaching and research level of the members of XUAN WU pathology DAC is in a leading position in China.
Individuals & samples
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Submitter:   Piao Yueshan / yueshanpiao@126.com
Organization:   Xuanwu Hospital, Capital Medical University, Beijing, China
Submission date:   2022-07-01
Requests:   -