Related Experiment Video

Updated: Jul 18, 2025

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

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ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview

Greta Amore1, Elisa Calì2, Maria Spanò3

  • 1Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom; Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", University of Messina, Via C. Valeria 1, 98125 Messina, Italy.

Brain & Development
|August 26, 2023
PubMed
Abstract

Keywords:
ATP6V1B2ATP6V1B2-related disordersDeafness-onycodystrophy-osteodystrophy-mental retardation-seizuresDevelopmental epileptic encephalopathyDominant deafness-onycodystrophyLennox-Gastaut syndromeZimmermann-Laband syndrome 2

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