Welcome!

 

The mission of this website is to provide access to comprehensive, curated information about known KCNQ2 and KCNQ3 variants and their effects.

 

Background

Severe illness related to genetic variants of KCNQ2 was discovered in 2012 in a handful of cases. Recognizing the need to validate and share information, a team of scientists and doctors working with families and supporters of children affected by KCNQ2 and KCNQ3 related illnesses formed the Rational Intervention for KCNQ2/3 Epileptic Encephalopathy Project. The RIKEE project's singular goal is to develop effective therapies for KCNQ2/3 related illness based on scientific understanding of the underlying causes. 

 

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 variant database focusing attention on key issues related to KCNQ2/3 related illness. 

 

This site is intended for families, researchers, and healthcare professionals interested in learning more about KCNQ2 and KCNQ3.

 

What is here

The centerpiece of this website is the Variant Database, a compilation of information about known KCNQ2 and KCNQ3 genetic variants, their phenotypes, and related lab studies. In addition, this site includes:

• Accurate background information written to be comprehensible to families and the general public.

• Information about how families with affected individuals can have information included in this site and how they can be contacted about future research. 

• Links to other websites and groups devoted to KCNQ2/3 related illness.

• A listing of collaborating physicians and scientists.

• Full disclosure of authorship and financial support. This website is currently being edited and maintained at Baylor College of Medicine where it is part of an IRB approved research protocol. Scientific content is being curated by an international, multi-disciplinary team.