Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
Anna R. Duncan, Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant, Anne O’Donnell‐Luria, Zaheer M. Valivullah, Alysia Kern Lovgren, Elaina M. England, Emanuele Agolini, Jill A. Madden, Klaus Schmitz‐Abe, Amy Kritzer, Pamela Hawley, Antonio Novelli, Paolo Alfieri, Giovanna Stefania Colafati, Dagmar Wieczorek, Konrad Platzer, Johannes Luppe, Margarete Koch‐Hogrebe, Rami Abou Jamra, Juanita Neira‐Fresneda, Anna Lehman, Cornelius F. Boerkoel, Kimberly Seath, L. Clarke, Yvette van Ierland, Emanuela Argilli, Elliott H. Sherr, Andrea Maiorana, Thilo Diel, Maja Hempel, Tatjana Bierhals, Raúl Estévez, Thomas J. Jentsch, Michael Pusch, Pankaj B. Agrawal
Topics & Concepts
EndosomeAnion exchangerProtonEncoding (memory)IonNeuroscienceChemistryBiologyGeneticsIon exchangePhysicsQuantum mechanicsIntracellularOrganic chemistryIon channel regulation and functionCellular transport and secretionMitochondrial Function and Pathology