官方服务：
资源简介：
Epilepsy associated microdeletions.
应用场景：
创建时间：
2018-08-27
相关数据集
Table2_Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.XLSX
Background: Epilepsy in childhood is a common and diverse neurological disorder. We conducted a genetic and phenotype analysis of a Chinese cohort of infants and children with epilepsy. Methods: We co
NIAID Data Ecosystem50
CAD gene and early infantile epileptic encephalopathy-50; three Iranian deceased patients and a novel mutation: case report
DNA sequencing data sets of all three affected patients with this specific CAD gene mutation
NIAID Data Ecosystem40
Candidate genes associated with epileptogenicity.
The 40 genes that are specifically differentially expressed within the epileptogenic region and whose expression changes are not due to the effects of the lesion or seizures. These genes are grouped b
Figshare2015-12-02 更新10
Additional file 11 of Kcnq2 R213 knock-in mice reveal variant- and region-specific mechanisms underlying self-limited familial neonatal-infantile epilepsy and early infantile developmental and epileptic encephalopathy
Additional file11 (XLSX 53 KB)
NIAID Data Ecosystem40
Data_Sheet_1_SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.ZIP
Background:SCN1A is one of the most common epilepsy genes. About 80% of SCN1A gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic encephalopathy. More than 1,800 mu
NIAID Data Ecosystem20
