Bravo! The First Piece of the AHC Puzzle Solved! First AHC Gene Identified!

On Sunday, July 29, 2012, an article was published on the website of Nature Genetics ( titled, “De Novo Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.” The article was authored by a collaboration of international researchers including those from Duke University and the University of Utah.For many years, families with AHC waited for an answer to the question, “what causes AHC?”  One answer to that question has finally been answered. The Nature Genetics article discusses the identification of a specific gene mutation in 66 percent of AHC patients. The mutation is called ATP1A3. The article concluded that this gene mutation explains the majority of AHC cases and is a valuable tool for diagnosing the disorder.

The findings in the article are a direct result of the close relationships developed between AHC patients, families, foundations, practitioners, and researchers.  AHC patients contributed to databases and DNA banks.  Families raised money to fund research projects. Foundations worked to coordinate research projects and inform the public about AHC. Practitioners consulted with patients and their families when so few professionals knew much about AHC. And, researchers dedicated countless hours to the study of AHC and the genetics behind the disorder.

It would be our honor to post a full text copy of the article on our website.  However, copyright law prohibits us from doing so.  The following points provide a few details on the gene discussed in the article.

What is ATP1A3? It is the official name of this gene, “ATPase, Na+K+ transporting, alpha 3 polypeptide.”

What does the ATP1A3 gene do? The ATP1A3 gene provides instructions for making one part of a protein.  This protein uses energy from a molecule to transport charged atoms into and out of cells. Specifically, it pumps sodium ions (Na+) out of cells and potassium ions (K+) into cells. This is critical for the normal function of nerve cells in the brain.

 What does this mean? It means that researchers identified a mutation with the ATP1A3 gene as a cause of AHC in a majority of patients. The article also mentions that AHC patients with epilepsy have a greater chance of having this specific gene mutation than those without epilepsy.

How does this help AHC patients?  Processing the results of this research will take some time. However, since there is established research on this particular gene mutation, it helps us determine in which direction to begin research on creating treatment protocols for AHC patients.

How do I find out if my child has the mutation?   The Foundation created a process for testing AHC patients for the genetic mutation. Please contact our Medical Liaison, Sharon Ciccodicola at and she will go over the instructions for DNA testing and genetic counseling.

What you’ll find on the internet.  The Foundation is mostly run by parents of children with AHC. Some of their children may have the mutation and some may not. We whole heartily recognize the need to find as much information as you can about ATP1A3 by searching on the internet. We ask that you exercise caution when doing so because the link between this mutation and AHC is so very new.  We encourage you to speak to your physicians and continue to check our website for more information.

What’s next?  Research and more research.  Now that one of the genes responsible for causing AHC has been identified, more research is needed. Researchers believe there are additional gene mutations that cause AHC and that they still need to be found.  Research also needs to be done on how to best treat AHC patients with the ATP1A3 mutation. So, the need to raise money to fund research is now more important than ever.

The Foundation is greatly appreciative to the families who started raising money over a decade ago to help get us to this day. We are also appreciative to the researchers and practitioners who worked for many years to support the AHC community. And, we are thankful for the collaborative efforts of geneticists around the world who made finding this gene mutation and the publication of the article in Nature Genetics possible.

Vicky Platt

Secretary, AHCF

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