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Dard R, Mignot C, Durr A, Lesca G, Sanlaville D, Roze E, Mochel F. “Relapsing Encephalopathy with Cerebellar Ataxia Related to an ATP1A3 Mutation.” Development Medicine and Child Neurology (September 23, 2015).

Lebas A, Guyant-Marechal L, Hannequin D, Riant F. “Severe Attacks of Familial Hemiplegic Migraine, Childhood Epilepsy and ATP1A2 Mutation.” Cephalalgia 28 (2008): 774-777.

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/

Assaf BT, Whiteley LO. “Considerations for Preclinical Safety Assessment of Adeno-Associated Virus Gene Therarpy Products.” Toxicologic Pathology. 2017 Oct 7; 46(8): 1020-1027. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30295175

Crudele JM, Chamberlain JS. “AAV-based Gene Therapies for the Muscular Dystrophies.” Hum Mol Genet. 2019 Jun 25. Ahead of print. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31238336

Domenger C, Grimm D. “Next-generation AAV Vectors – Don’t Judge a Virus (only) by its Cover.” Hum Mol Genet. 2019 Jul 1. Ahead of print. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31261383

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

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/