ATP1A1

Publications

Beuschlein F et al. Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat Genet. 2013;45:440-444. PMID: 23416519.

Dohrn MF et al. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology. 2022;98(11):440-45. PMID: 35110381.

He J et al. ATP1A1 mutations cause intermediate Charcot-Marie-Tooth disease. Hum Mutat. 2019;40(12):2334-43. PMID: 31373411.

Lassuthova P et al. Mutations in ATP1A1 cause dominant Charcot-Marie-Tooth Type 2. Am J Hum Genet. 2018;102(3):505. PMID: 29499166.

Lin Z et al. ATP1A1 de novo mutation-related disorders: clinical and genetic features. Front Pediatr. 2021;9:657256. PMID: 33968856.

Schlingmann KP et al. Germline de novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures, and intellectual disability. Am J Hum Genet. 2018;103(5):808-16. PMID: 30388404.

Stregapede F et al. Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation. Clin Genet. 2020; 97(3):521-26. PMID: 31705535.