Associated Papers
Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model.
Sheng W et al.
Clinical Genetics, 2024
V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities.
Falace A et al.
Cells, 2024
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview.
Amore G et al.
Brain & Development, 2023
The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice.
Rousseau J et al.
Genes, 2023
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
Veltra D et al.
American Journal of Medical Genetics. Part A, 2022
ATP6V1B2-related epileptic encephalopathy.
Inuzuka LM et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2020
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