REGISTRIES

International KCNQ2 Encephalopathy Patient Registry

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The International KCNQ2 Encephalopathy Patient Registry is being established as a collaborative effort between medical researchers and the KCNQ2 Cure Alliance. The database will have a worldwide reach in collecting information from families on their child’s specific genetic and clinical presentation and that data (in a de-identified format) will be accessible to all professionals aiding in our mission to find a cure for KCNQ2 EOEE. The KCNQ2 Cure Alliance also intends to make this data available to families to aid in their role as caregivers.

Information to be collected may include developmental history, seizure presentation, control and effectiveness of therapies, as well as other medical problems and their management. Additional information may be collected from participants over time that is of interest to researchers and to follow patients longitudinally (as they age) to ascertain the course of the disease over time.

You will be provided with an information sheet and consent form for the study.

If you are a family or caregiver caring for a child with a mutation in the KCNQ2 gene, you are invited to participate in this database. 

If you would like to participate in the database, please click here and you will be notified of the launch of the registry soon.

This registry will be a unique source of information on patients throughout the world. The registry is being established by the KCNQ2 Cure Alliance and is not owned by any single research institution and thus will be made available across all professionals, worldwide, with the goal of supporting any research to improve the lives of patients with KCNQ2 encephalopathy.

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OTHER REGISTRIES

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RIKEE Project Database

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The Cooper Lab at Baylor is compiling a registry of KCNQ2 patients. If you are interested in participating in RIKEE in addition to the International KCNQ2 Encephalopathy Patient Registry – Email The Cooper Lab today to register in the RIKEE Database

Severe illness related to genetic variants of KCNQ2 was discovered 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-based illnesses formed the Rational Intervention for KCNQ2 Epileptic Encephalopathy Project. The RIKEE Project’s singular goal is to develop effective therapies for KCNQ2 related illness based on scientific understanding of its function.

Although a large amount of data regarding KCNQ2 and related illness is published or deposited in more general-purpose web resources, the complexity and scared distribution of that information hampers understanding. We have developed a locus-specific database focusing attention on key issues related to KCNQ2 related illness.

 


Rare Epilepsy Network

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KCNQ2 Cure Alliance, The Epilepsy Foundation, and 9 other rare epilepsy organizations were awarded a $1M grant to launch a rare epilepsy registry!! We challenge every KCNQ2 caregiver to complete the REN survey so we can better understand KCNQ2 Epilepsy and how to cure it! Get started here: https://ren.rti.org/Enroll

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