样本编号 SAMC2186299
外部数据库编号 GSA-Human: HRS398216
样品名称 NP1500322
样本标题 NP1500322
样品类型 Human sample
物种名称 Homo sapiens
描述信息 N/A
样本属性 *该样本包含更多受控访问信息,请通过GSA-Human系统申请项目HRA002611数据获取。
发布日期 2024-07-01
项目编号 PRJCA009245
提交者 Yueshan  Piao  (yueshanpiao@126.com)
提交单位 Xuanwu Hospital, Capital Medical University, Beijing, China
提交日期 2023-06-18

样本包含数据信息

资源名称 描述
GSA-Human (1) -
HRA002611  (Controlled Access) 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.
相关样本
Samples (1)