Functional identification of potential non-canonical N-glycosylation sites within Cav3.2 T-type calcium channels

by Vendula Ficelova, Ivana A. Souza, Leos Cmarko, Maria A. Gandini, Robin N. Stringer, Gerald W. Zamponi, Norbert Weiss
Published 2020-11-01

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

by Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Ivana A. Souza, Judy Ibrahim, Tomas Vacik, Waseem Mahmoud Fathalla, Jozef Hertecant, Gerald W. Zamponi, Lubica Lacinova, Norbert Weiss
Published 2021-08-01

A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity

by Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Sun Huang, Omid Haji-Ghassemi, Romane Idoux, Anna Liashenko, Ivana A. Souza, Yuriy Rzhepetskyy, Lubica Lacinova, Filip Van Petegem, Gerald W. Zamponi, Roger Pamphlett, Norbert Weiss
Published 2020-03-01