Back Donate
Donate
Default image for pages

Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F. “Biallelic Loss of Function Variants in ATP1A2 Cause Hydrops Fetalis, Microcephaly, Arthrogryposis and Extensive Cortical Malformations.” Eur J Med Genet. 2019 Jan. Abstract: https://www.sciencedirect.com/science/article/pii/S1769721218308024?via%3Dihub

Sampedro Castaneda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marqquest Caldas V, Conti Reed U, da Silva AMS, O’Callaghan B, Phadke R, Bugiardini E, Sud R, Matthews E. “A Novel ATP1A2 Mutation in a Patient with Hypokalaemic Periodic Paralysis and CNS
Symptoms.” Brain. 2018 Dec; 141 (12): 3308-3318. Full Text: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262219/pdf/awy283.pdf

Sweadner KJ, Arystarkhova E, Penniston JT, Swoboda KJ, Brashear A, Ozelius LJ. “Genotype-structure-Phenotype Relationships Diverge in Paralogs ATP1A1, ATP1A2, and ATP1A3.” Neurol Genet. 2019 Feb 4; 5(1): e303. Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384024/

Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S. “Alternating Hemiplegia of Childhood or Familial Hemiplegic Migraine? A Novel ATP1A2 Mutation.” Annals of Neurology 55, no. 6 (June 2004): 884-887.

Ueda K, Serajee F, Huq AM. “Clinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene Mutation.” Pediatrics. 2018 Apr; 141 (Suppl 5): S390-S394. Fulltext: http://pediatrics.aappublications.org/content/pediatrics/141/Supplement_5/S390.full.pdf

Unekawa M, Ikeda K, Tomita Y, Kawakami K, Suzuki N. “Enhanced Susceptibility to Cortical Spreading Depression in Two Types of Na+,K+-ATPase α2 Subunit-deficient Mice as a Model of Familial Hemiplegic Migraine 2.” Cephalalgia. 2018 Aug; 38 (9): 1515-1524. Abstract: http://journals.sagepub.com/doi/abs/10.1177/0333102417738249?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed

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.