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
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R et al.
Brain : a Journal of Neurology, 2022
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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