ATP8A2

Publications

Cacciagli P et al. Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. Eur J Hum Genet. 2010;18(12):1360–3. PMID: 20683487.

Choi H et al. Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders. Hum Mutat. 2019;40(12):2353–64. PMID: 31397519.

Damásio J et al. Congenital ataxia due to novel variant in ATP8A2. Clin Genet. 2021;100(1):79–83. PMID: 33682124.

Guissart C et al. ATP8A2-related disorders as recessive cerebellar ataxia. J Neurol. 2020;267(1):203–13. PMID: 31612321.

Heidari E et al. Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum. Hum Mutat. 2021;42(5):491–7. PMID: 33565221.

Martín-Hernández E et al. New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Neurogenetics. 2016;17(4):259–63. PMID: 27679995.

McMillan HJ et al. Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. Orphanet J Rare Dis. 2018;13(1):1–10. PMID: 30012219.

Mohamadian M et al. A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4. J Clin Lab Anal. 2020;34(11):1–9. PMID: 33079427.

Narishige Y et al. Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2. Tohoku J Exp Med. 2022;256(4):321–6. PMID: 35321980.

Onat OE et al. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. Eur J Hum Genet. 2013;21(3):281–5. PMID: 22892528.

Zhu X et al. Mutations in a P-Type ATPase Gene Cause Axonal Degeneration. PLoS Genet. 2012;8(8). PMID: 22912588.