Biallelic Loss of Function Variants in ATP1A2 Cause Hydrops Fetalis, Microcephaly, Arthrogryposis and Extensive Cortical Malformations

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

Wilbur C, Buerki SE, Guella I, Toyota EB, Evans DM, McKenzie MB, Datta A, Michoulas A, Adam S, Van Allen MI, Nelson TN, Farrer MJ, Connolly MB, Demos M. “An Infant with Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.” Pediatric Neurology 75 (October 2017): 87-90.

Boileau S, Vuillaume I, Sablonniere B, Marignier S, Des Portes V, Vallee L, Auvin S. “Absence of T378N Mutation of ATP1A2 Gene in Five Patients with Alternating Hemiplegia of Childhood.” Developmental Medicine and Child Neurology 50, no.11 (November 2008) 879-880.

Hiekkala ME, Vuola P, Artto V, Häppölä P, Häppölä E, Vepsäläinen S, Cuenca-León E, Lal D, Gormley P, Hämäläinen E, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Harno H, Havanka H, Keski-Säntti P, Färkkilä M, Palotie A, Wessman M, Kaunisto MA, Kallela M. “The Contribution of CACNA1A, ATP1A2 and SCN1A Mutations in Hemiplegic Migraine: A Clinical and Genetic Study in Finnish Migraine Families.” Cephalalgia. 2018 Oct; 38 (12); 1849-1863. Abstract: http://journals.sagepub.com/doi/abs/10.1177/0333102418761041?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed

Kinoshita PF, Leite JA, Orellana AM, Vasconcelos AR, Quintas LE, Kawamoto EM, Scavone C. “The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence.” Frontiers in Physiology (June 2, 2016).