10 YEARS OF SUPPORTING FAMILIES, RESEARCH, AND COMMUNITIES

UNITY. HOPE. STRENGTH. LOVE

10 YEARS OF SUPPORTING FAMILIES, RESEARCH, AND COMMUNITIES

UNITY. HOPE. STRENGTH. LOVE

What is KCNQ2?

KCNQ2 is a gene that plays a vital role in brain function by controlling how nerve cells communicate through electrical signals. It is essential for normal brain activity, particularly in early development. Changes in the KCNQ2 gene are among the most common genetic causes of neonatal seizures, but KCNQ2-related disorders can vary widely in their impact. Some newborns may have brief, self-resolving seizures with no lasting effects, while others experience more severe seizures that can interfere with their development. However, seizures are not always present—some children with KCNQ2-related disorders may primarily face developmental delays, movement difficulties, or other neurological challenges without ever experiencing seizures. The effects of a KCNQ2 genetic variation depend on the specific change in the gene, influencing the severity and symptoms a child may have.

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The ABC's of KCNQ2

The KCNQ2 Cure Alliance (KCA) is dedicated to advancing research and resources for families affected by KCNQ2-related disorders, and its efforts have helped support greater awareness and understanding of these conditions. KCA has fostered research that informs families and medical professionals through advocacy, collaboration, and funding initiatives. KCNQ2- and KCNQ3-Associated Epilepsy, published in Cambridge Elements - Genetics in epilepsy, provides a comprehensive look at the role of KCNQ2 and KCNQ3 genes in neonatal-onset epilepsy, highlighting the variability of symptoms, from mild to severe, and the different ways these genetic mutations can affect development. This resource offers a clearer picture of what a KCNQ2-related diagnosis means, helping families navigate treatment options and better understand their child’s condition. The article serves as a critical reference for professionals, compiling the latest research on genetic mechanisms, clinical presentations, and emerging therapeutic approaches.

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KCNQ2 Connections

Old Friends, New Research, and How to See Around Corners

orrin research

  Old Friends, New Research, and How to See Around Corners Hi Everyone – Lots of exciting things are happening in the KCNQ2 community in cities and towns all over the world and I’ll keep you posted through this blog. Today’s news comes direct from the Big Apple. Dr Orrin Devinsky has joined the Scientific…

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New Horizons of Pluto, Jupiter, and KCNQ2

kcnq2 awareness fundraise

  Hi Everyone – Welcome to our new blog. We want to keep you updated on some of the some of the great things so many people are doing on behalf of those with KCNQ2. We would like begin by extending a very special thank you to Tony Gleason. Some of you may have met…

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KCNQ2 Cure's Fundraising Handbook

Be an active supporter in the quest to cure KCNQ2-Related Disorders. Download our toolkit to launch your personal fundraising event.

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