4 of 7: Epi4K: Epileptic Encephalopathies Project

4 / 7：Epi4K：癫痫性脑病项目

基本信息

批准号：
8533047
负责人：
Elliott Sherr
金额：
$ 25.11万
依托单位：
UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
依托单位国家：
美国
项目类别：
财政年份：
2011
资助国家：
美国
起止时间：
2011-09-30 至 2014-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8533047
关键词：
Accounting Address Affect Bioinformatics Biological Brain Candidate Disease Gene Child Childhood Clinical Coupled Critiques Data Development Diagnosis Diagnostic Diffuse Disease Dominant Genetic Conditions Electroencephalography Encephalopathies Epilepsy Etiology Evaluation Exclusion Criteria Family Family member Functional disorder Gastaut syndrome Genes Genetic Genetic Predisposition to Disease Genome Goals Human Hypsarrhythmia Individual Infantile spasms Intractable Epilepsy Ions Lead Life Mental Retardation Mining Minority Mutation Nucleotides Parents Pathway interactions Patients Personal Satisfaction Phenotype Phospholipase C Play Population Recurrence Research Research Personnel Risk Role Seizures Signaling Molecule Spasm Study Section Synapses Syndrome Targeted Resequencing Testing Tonic Seizures Triad Acrylic Resin Universities Update Variant Washington Work Writing atonic seizure autism spectrum disorder base cohort exome exome sequencing gene discovery improved inclusion criteria infancy insight meetings nervous system disorder novel phenome proband prognostic tool transcription factor

项目摘要

DESCRIPTION (provided by applicant): The primary goal of the Epi4K Center Without Walls is to increase understanding of the genetic basis of human epilepsy in order to improve the well-being of patients and family members living with these disorders. This improvement will come in the form of better diagnostics, treatments and cures. To accomplish this goal, Epi4K aims to analyze the exomes and genomes of a large number of well-phenotyped epilepsy patients and families collected by investigators from several major research groups. The specific goals of this project (4 of 7: Epileptic Encephalopathies) are to discover mutations or deletions in genes by mining sequence data from exomes of 500 patients with two severe childhood epileptic encephalopathies. Infantile Spasms (IS) and Lennox Gastaut Syndrome (LGS), to understand how these mutations fit into a broader network of developmental interactions within the brain and to compare the causes of these defined epilepsies with other epileptic encephalopathies (EE) of childhood. Dr. Sherr from UCSF, Dr. Scheffer from the University of Melbourne and Dr. Mefford from the University of Washington will co-direct this project. The discovery of novel genes that lead to IS/LGS and other severe childhood EE in the Epi4K cohorts will further our understanding of epilepsy genetics and lead to a better understanding of epilepsy pathophysiology and to the possibility of better tools for diagnosis and treatment.

描述（由申请人提供）：Epi4K 无墙中心的主要目标是增进对人类癫痫遗传基础的了解，以改善患有这些疾病的患者和家庭成员的福祉。这种改进将以更好的诊断、治疗和治愈的形式出现。为了实现这一目标，Epi4K 旨在分析由几个主要研究小组的研究人员收集的大量表型良好的癫痫患者和家庭的外显子组和基因组。该项目的具体目标（7 中的 4：癫痫性脑病）是通过挖掘 500 名患有两种严重儿童癫痫性脑病的患者的外显子组序列数据来发现基因突变或缺失。婴儿痉挛症 (IS) 和 Lennox Gastaut 综合征 (LGS)，了解这些突变如何适应大脑内更广泛的发育相互作用网络，并将这些明确的癫痫的原因与儿童期其他癫痫性脑病 (EE) 进行比较。加州大学旧金山分校的 Sherr 博士、墨尔本大学的 Scheffer 博士和华盛顿大学的 Mefford 博士将共同指导该项目。在 Epi4K 队列中发现导致 IS/LGS 和其他严重儿童 EE 的新基因将进一步加深我们对癫痫遗传学的理解，并导致更好地了解癫痫病理生理学，并有可能获得更好的诊断和治疗工具。