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Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion PA, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau GA. “Missense Variants in ATP1A3 and FXYD GeneFamily are Associated with Childhood-onset Schizophrenia.” Molecular Psychiatry. 2018 Jun 12. Abstract:
https://www.nature.com/articles/s41380-018-0103-8

Kors E, VanMolkot K, Haan J, Kheradmand K, Stroink H, Laan L, Gill D, Pascual J, van den Maagdenberg A, Frants R. “Alternating Hemiplegia of Childhood: No Mutations in the Second Familial Hemiplegic Migraine Gene ATP1A2.” Neuropediatrics 35, no. 5 (October 2004): 293-296.

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

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.

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