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
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM et al.
The Lancet. Neurology, 2023
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R et al.
Brain : a Journal of Neurology, 2022
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