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Bassi MT, Bresolin N, Tonelli A. “A Novel Mutation in the ATP1A2 Gene Causes Alternating Hemiplegia of Childhood.” Journal of Medical Genetics 41 (2004,): 621-628.

Panagiotakaki E, de Grandis E, Stagnaro M, et al. Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood ‐ a study of 155 patients. Orphanet J Rare Dis 2015;10(1):123.

Rosewich H, Thiele H, Ohlenbusch A, et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012;11(9):764-773.

Save J, Poncelin D, Auvin S. Caregiver’s burden and psychosocial issues in alternating hemiplegia of childhood. Eur J Paediatr Neurol. 2013;17:515–521.

Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol. 2015 Jan;52(1):56-64.

We are working with top scientists to edit out the mutation that causes AHC

Transgene therapy is another avenue of research that we are pursuing.

The AHC Foundation has published an Emergency Room Protocol. This document intends to educate doctors unfamiliar with AHC and your child’s specific medical needs.
Especially in this time of COVID-19 viral infections where your child may need to be admitted for treatment, this document will accompany your child and be passed off to caregivers for their reference.

Vetted by our Medical Advisory Board, this will serve as a diverse and valuable tool for the ER, the school nurse, and other needs.

The AHC community is partnering with RARE-X, a 501(c)(3) nonprofit organization, to build a Data Collection Program for AHC families. Participating in the AHC Data Collection Program will help accelerate research and the development of new drugs, devices, and other therapies.

The AHC Community is building the AHC Data Collection Program to …

Inform researchers how AHC changes over time
Enable better data to use in clinical trials
Give patients the opportunity to participate in clinical trials
Reduce the time it takes to study new medicines
Speed up the time to get treatments to patients
Enable the use of data as a placebo (instead of actual patients) in a clinical trial

The AHC Data Collection Program will be patient-owned but enabled by RARE-X technology. All data governance, consent support, and data security will be put in place by RARE-X. AHC families will benefit from a streamlined process for collecting research-ready data in a phased approach.

This will become the “hub” to which all other databases can connect, streamlining the research process.

You can use this letter template to create an accompaniment letter for your child’s AHC medication