Associated Papers
ATP6V1A variants are associated with childhood epilepsy with favorable outcome.
Li B et al.
Seizure, 2024
Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review.
Ma J et al.
Human Mutation, 2024
40225911 (PubMed )
Supplement: 4678670.f1.xlsx › Supplementary_Table
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
Novel Mutation in ATP6V1A Gene with Infantile Spasms in an Indian Boy.
Kadwa RA
Neuropediatrics, 2020
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Fassio A et al.
Brain : a Journal of Neurology, 2018
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