KCNA2 Research Highlights

KCNA2 research is featured below. Consider sharing this information with your colleagues.



1. 4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy
2. A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine SEPTEMBER 2021
3. Multiple Sclerosis Drug Is Repurposed to Treat Rare Cause of Epileptic Encephalopathy OCTOBER 2021
4. Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders FEBRUARY 2021
5. Dominant KCNA2 mutation causes episodic ataxia and pharmaco-responsive epilepsy NOVEMBER 2016

First KCNA2 Natural History Study:

The first ever KCNA2 Natural History Study is currently being hosted by the Filadelfia Epilepsy Centre in Dianalund, Denmark in collaboration with Heidelberg University and Tubingen University in Germany. The main researchers of the study are Dr. Sabrina Neri, Dr. Guido Rubboli and Dr. Rikke Steensbjerre Møller. The study was initiated in July of 2021 and is scheduled to conclude in the spring of 2022. So far, 25 families have participated in the study. The questionnaire has been translated in English, Italian, Spanish, German and French. For more information about this study contact Dr. Sabrina Neri at [email protected]. This research will create a better understanding of KCNA2 leading to effective treatment.

KCNA2 Epilepsy, Inc. was initiated in 2017 through Facebook. Since then, we have created a community of over 65 families, established a KCNA2 web site, a non-profit (501C3), elected a KCNA2 Board of Directors and appointed a world renowned Scientific Committee who specialize in rare epilepsy research.

The KCNA2 Medical and Research Update Newsletter highlights current information for medical professionals working with KCNA2 families. Please consider passing this information along to other professionals. To read the January, 2022 KCNA2 Newsletter in its entirety, click here.  

Nancy Musarra Ph.D. (KCNA2 Mom of 24-year-old)

President and Founder of KCNA2 Epilepsy, Inc.

Pictured Above: Nancy and her daughter Giana