Associated Papers
ATP6V1A variants are associated with childhood epilepsy with favorable outcome.
Li B et al.
Seizure, 2024
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R et al.
Brain : a Journal of Neurology, 2022
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Vogt G et al.
Journal of Inherited Metabolic Disease, 2021
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak CC et al.
Npj Genomic Medicine, 2018
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