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Hakim CH, Wasala NB, Nelson CE, Wasala LP, Yue Y, Lounderman JA, Lessa TB, Dai A, Zhang K, Duan D. “AAV CRISPR Editing Resuces Cardiac and Muscle Function for 18 Months in Dystrophic Mice.” JCL Insight. 2018 Dec 6; 3(23). Fulltext: https://insight.jci.org/articles/view/124297

The AHC Foundation is pleased to provide the AHC community with a list of research articles published over the years on AHC-related topics. While this bibliography is in no way complete, it is a comprehensive record of academic and scientific publications relevant to our community.

When a full text version of the article is available free of charge on the internet, a link is provided. Otherwise, abstracts from the article can be helpful and found on Pub Med at: https://pubmed.ncbi.nlm.nih.gov/

Naso M, Tomkowicz B, Perry W, Shrohl W. “Adeno-Associated Virus (AAV) as a Vector for Gene Therapy.” BioDrugs. 2017; 31: 317-334.
Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548848/

Here is a list of the top 10 most influential papers ever published on AHC.

Heinzen EL, Swoboda KJ, Hitomi Y, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012; 44:1030–1034.

Jasien J, Bonner M, D’Alli R, Mikati M, et al. Cognitive, Adaptive, and Behavioral Profiles and Management of Alternating Hemiplegia of Childhood. Developmental Medicine & Child Neurology. 2018 Oct 26, 61: 547-554.

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.

Uchitel J, Abdelnour E, Boggs, A, Mikati, M. Social Impairments in Alternating Hemiplegia of Childhood. Developmental Medicine & Child Neurology. 2020 July, 62 (7); 820-826.

Verret S, Steele JC. Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy. Pediatrics. 1971;47(4):675-680.

Viollet L, Glusman G, Murphy KJ, et al. Alternating hemiplegia of childhood: Retrospective genetic study and genotype‐phenotype correlations in 187 subjects from the US AHCF registry. PLoS One 2015;10(5):1–14.

Wallace K, Uchitel J, Prange L, Mikati M. Characterization of Severe and Extreme Behavioral Problems in Patients with Alternating Hemiplegia of Childhood. Pediatric Neurology 2020 Jun 27; 111; p5-12.

Pattali R, Mou Y, Li XJ. “AAV9 Vector: A Novel Modality in Gene Therapy for Spinal Muscular Atrophy.” Gene Ther. 2019 Jun 26. Ahead of print. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31238336

ASO project description and what is needed going forward

The natural history database is getting an update, and we need your help

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.