A New Database Platform for Clinical and Genetic Investigation of Epilepsies and the New ILAE Classification

Neurology(2018)

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摘要
Objective: To design a new database platform for the clinical and genetic investigation of epilepsies under a document-oriented scheme that allow data re-update and reanalysis according to the new 2016 ILAE classification of seizures and epilepsies. Background: The Genetic Epilepsy Studies Consortium (GENESS) and collaborators have collected clinical and genetic information from families with epilepsy residing in Los Angeles, CA (USA), Mexico, Honduras, El Salvador, Guatemala, Peru, Brazil, Spain, France, and Japan. For more than four decades, such information has been stored in physical and electronic files. Design/Methods: We created a document-oriented database model using a MongoDB platform, which provides flexibility, scalability and high performance. Mongoose allows data object modeling and maps our models with the actual database in NodeJS, as well as with ReactJS, React-Redux and other modern development libraries for building user interface. We added security models like data encryption and authentication tokens to restrict access to the system. We included action log for future auditing, updating and reanalysis. Designed as a local solution, our pilot system can be converted to a cloud environment. Results: During data migration, weaknesses were discovered in data sources and intake forms. Hence, the database platform was redesigned according to the reality of information obtained and the new ILAE classification. Reanalysis according to the new ILAE classification of seizures and epilepsies in 600 probands and families with genetic generalized epilepsies registered by the GENESS Intake Form will be shown. The new platform improves organization of information, enhances ability to update and reclassify, manipulate information, perform basic statistics and export information for analyzes in complex statistical programs. Conclusions: Our information management tool is a novel contribution to research in epilepsy genetics that will necessarily require frequent reanalysis in seeking perfection. Whenever ILAE classifications change, our platform could strengthen the clinical and genetic analysis of families with inherited epilepsies. Study Supported by: National Institutes of Health (1R01NS055057), VA Merit Review (5I01CX000743) and UNITEC. Disclosure: Dr. Discua has nothing to disclose. Dr. Duron has nothing to disclose. Dr. Martinez has nothing to disclose. Dr. Nguyen has nothing to disclose. Dr. Patterson has nothing to disclose. Dr. Bailey has nothing to disclose. Dr. Tanaka has nothing to disclose. Dr. Ochoa has nothing to disclose. Dr. Jara-Prado has nothing to disclose. Dr. Alonso has nothing to disclose. Dr. Lopez Ruiz has nothing to disclose. Dr. Medina has nothing to disclose. Dr. Guilhoto has nothing to disclose. Dr. Targas Yacubian has nothing to disclose. Dr. Silva has nothing to disclose. Dr. Arias has nothing to disclose. Dr. Delgado-Escueta has nothing to disclose.
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关键词
epilepsies,new ilae classification,genetic investigation
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