Although a large amount of data regarding KCNQ2/3 and related illness is published or deposited in more general-purpose web resources, the complexity and scattered distribution of that information hampers understanding. We have developed a KCNQ2/3 variant database focusing attention on key issues related to KCNQ2/3-related illness.
This database is accessible to an international team of researchers working on KCNQ2/3 related illness.
The database is designed to provide information about specific KCNQ2/3 variants to families, researchers and the general public. For each known variant included in the database, the website will provide information about:
Whether it has appeared as a new (de novo) mutation in an infant or has been inherited from a father or mother
Clinical features of affected individuals
The number of cases/variants so far identified
The most up-to-date clinical information and results of functional testing are available on individual variant pages.
Information on the RIKEE website is being updated quarterly as further cases are reported to us.
We are collecting variants for this database through 4 main pathways:
The KCNQ2/3 variant database is maintained by the Cooper Laboratory at Baylor College of Medicine. Before being published on the website, each variant is reviewed by a multi-institutional and multidisciplinary review committee.
DO NOT USE THE INFORMATION ON THIS DATABASE TO MAKE DIAGNOSES, MAKE CHANGES TO MEDICATION. Always consult your doctor before making medical decisions.
YOU CAN LEARN MORE ON OUR GET INVOLVED Page.
About the Database
Last Updated: 12/02/2015