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February 2023

Third Edition (#3)

A Note from Nancy

We provide this newsletter to researchers, neurologists and treatment teams to stay informed about KCNA2 research. In this edition, we include four recently published KCNA2 studies from 2021 and 2022 and a 2015 study related to KCNA2 gain and/or loss of function.  

Also, a KCNA2 Natural History Study has been initiated by our KCNA2 Scientific Advisory Board. The study was initiated in July, 2021 and hosted by Filadelfia Epilepsy Centre in Dianalund, Denmark in collaboration with Heidelberg University and Tubingen University in Germany. Many of our KCNA2 families have participated. So far, the study is still in process and no information is available. We will continue to follow-up and provide information when we can.  

What’s New with KCNA2? We hope that the following information is helpful to researchers, neurologists and treatment teams so that you stay informed about KCNA2 and pass this information along to KCNA2 families in your practice.  

  • KCNA2 was represented at the America Epilepsy Society conference in Nashville, TN as part of the Rare Epilepsy Group, 

  • We have an upcoming Zoom meeting scheduled for May 5, 2023 for KCNA2 families around the globe.  

Read below for details about the above. And, THANK YOU for the support and care you provide. Please help our KCNA2 families stay connected.    

Nancy Musarra Ph.D.


President and Founder of KCNA2 Epilepsy, Inc.

Nancy with her daughter, Giana.


KCNA2 research is featured below. Click on each title to read the article. For previous newsletters click here.

  1. Successful medical treatment of west syndrome with a KCNA2 variant: a case report (2022)
  2. A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine (2021)
  3. Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (2022)
  4. De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. (2015)

What's New with KCNA2?

The American Epilepsy Society (AES) meets annually in the United States. This year the conference was held on December 3 - 7 in Nashville, TN. KCNA2 partnered with the Rare Epilepsy Network (REN) to share a booth with a variety of other rare epilepsies. We were exposed to about 7,000 researchers, neurologists and geneticists who attended the conference. Among those attending was Dr. Ingo Helbig, MD (pictured below). Dr. Helbig is a neurologist/researcher located at Childrens Hospital of Philadelphia (CHOP). He has been a positive advocate for KCNA2 since its discovery. He visited with Nancy Musarra and Corey Huth while they staffed the REN booth.

KCNA2 Brochures Now Available in 10 Languages


We now have brochures available in the following 10 languages: English, Espanol, Italiano, Polska, Portuguesa, Francais, Deutche, Greek, Chinese and Arabic. You can download and print this information.


Potassium Channel

Epilepsy Support Group

A Potassium Channel Epilepsy Support Group (on Facebook) was created on December 5, 2022 as a way to reach out and support families caring for a loved one with a Potassium Channel variation. 

The group was originally called KCNA when it was created in 2021. It was formed to connect families with a variety of KCNA mutations (KCNA1, KCNA2 or KCNA3). We changed the name of this group when we became aware of the many gene variations affecting the Potassium Channel causing similar disorders to KCNA2. Our group is now more inclusive because everyone challenged by a Potassium Channel Developmental variation are connected.

By connecting all families with potassium channel variations, we can support each other and share resources. It is our hope that as new medications and therapies are discovered we can advocate together, be included in trials and considered for possibly life-changing treatments.  While each one of our gene mutations are incredibly rare, we are a large group as we band together and our numbers grow, especially as increased genetic testing becomes better able to detect gene variations.

Together, we can demonstrate to pharmaceutical and bio-tech companies that there are many of us. Please join. This is another safe place to give and gain support to our community.

Click here to link

Alysha Applebaum is the Administrator for this

Facebook Group.

Click here to link


The KCNA2 Board is planning to host zoom meetings with all KCNA2 families who would like to participate.

Due to time zone differences with families all over the world, we will schedule meetings at various times, hoping to accommodate as many people as possible. The next meeting is scheduled for May 7, 2023 at 5PM Eastern Standard Time. Check facebook groups and email for more information.

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