Associated Papers
ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.
Raynor A et al.
Journal of Inherited Metabolic Disease, 2025
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.
Spagnoli C et al.
International Journal of Molecular Sciences, 2023
Synonymous variants in the ATP6AP2 gene may lead to developmental and epileptic encephalopathy.
Liang Y et al.
Frontiers in Neurology, 2023
Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.
Edelman WC et al.
Parkinsonism & Related Disorders, 2022
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.
Hirose T et al.
The Journal of Clinical Investigation, 2019
A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism.
Gupta HV et al.
Parkinsonism & Related Disorders, 2015
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