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资源简介：
Epilepsy associated microdeletions.
应用场景：
创建时间：
2018-08-27
相关数据集
Additional file 1: Table S1. of Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
List of 172 targeted genes included in the epilepsy panel. Table S2. Clinical and demographic information of the patients. Table S3. Quality control matrices of NGS test results for all patients in th
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Additional file 7 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
Additional file 7: Table S6. Comparison of association results to independent data. For each gene-trait pair, we list the original p-value, the GWAS trait(s) that we classified as most similar to a Ph
NIAID Data Ecosystem20
Table_3_GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.docx
Objective: The objective of this study is to explore the role of GRIN2A gene in idiopathic generalized epilepsies and the potential underlying mechanism for phenotypic variation. Methods: Whole-exome
NIAID Data Ecosystem20
Paroxysmal neurological Disorders
We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Hea
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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
