Overview
AHCF has a long history of advancing AHC research by championing the needs, voices, and lived experiences of those directly affected by AHC. We believe that collaborating is essential to driving meaningful progress in the AHC community. It ensures that every effort – whether in research, clinical care, policy, or awareness – remains grounded in the realities of those most affected. Our AHC families.
Here are some of the ways we honor the truth that progress is not a solo endeavor.
AHC Gene Discovery
Thanks to a collaborative research project financially supported by AHCF, the ATP1A3 gene was discovered to be the primary cause of AHC on January 18, 2012. Since then, this date has been celebrated as International AHC Day.
U.S. AHC Research Counsel
We are proud to work with Cure AHC, for Henry, and Rare Hope to amplify our impact, pool resources, share data, and align priorities to accelerate scientific discovery and improve patient outcomes.
AHC Europe
AHC Europe is an alliance of AHC patient advocacy groups in Europe. We are honored to support research projects together as well as share our experiences serving the AHC community.
International Patient Advocacy Group
AHCF is fortunate to collaborate with patient advocacy groups from around the world. A list of community-based organizations is in the Resources section.
ATP1A3 in Disease Symposium
In 2012, the symposium brought together prominent scientists, clinicians, and family foundations to discuss the role of the ATP1A3 gene in rare neurological diseases, present further research progress on AHC, RDP, CAPOS, and other ATP1A3-related diseases, and plan new research and include clinical teams in the ongoing work. We are pleased to support the goals and objectives of the symposium by donating funds to offset the cost of the meeting as well as providing stipends to researchers or medical specialists from the United States.
Clinical Research: ATP1A3 Disorders
To conduct ATP1A3 research, a collaboration group of professionals with a variety of skills and backgrounds are currently working together under the direction of Dr. Allison Brashear. We gladly support their efforts. The team of experts is from:
- University of Buffalo
- Wake Forest University
- University of Miami
- Harvard University
- UC Davis
IAHCRC
The IAHCRC (International Consortium for the Research on Alternating Hemiplegia of Childhood) was formed in 2012 with the main objective of conducting large-scale collaborative studies on the ATP1A3-related diseases The Consortium involves clinicians, geneticists and researchers working at university centers in Europe, USA, and Australia.
Five Select Papers
ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias. JAMA Pediatr. 2025 Mar 3. Landstrom AP, et al.
https://jamanetwork.com/journals/jamapediatrics/article-abstract/2830771
Critical Events in Patients with Alternating Hemiplegia of Childhood: A Cohort Study Subgroup Analysis. AANA J. 2025 Feb 1. Mikati MA, et al.
https://mydigitalpublication.com/publication/?i=839220&article_id=4920742&view=articleBrowser
Characteristics of non-sleep related apneas in children with alternating hemiplegia of childhood.
Eur J Paediatr Neurol. 2023 Dec 10:48:101-108. Mikati MA, et al.
https://www.ejpn-journal.com/article/S1090-3798(23)00186-1/abstract
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene. Eur J Hum Genet. Epub 2023 Dec 14. doi: 10.1016
Panagiotakaki E., et al.
https://www.nature.com/articles/s41431-023-01489-4
Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease. J Child Neurol. 2023 Oct;38(10-12):597-610.
Mikati MA., et al.
https://pubmed.ncbi.nlm.nih.gov/37728088/