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
Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle.
Bonnycastle K et al.
Journal of Neurochemistry, 2021
Transformative Network Modeling of Multi-omics Data Reveals Detailed Circuits, Key Regulators, and Potential Therapeutics for Alzheimer's Disease.
Wang M et al.
Neuron, 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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