Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy

por Berecki, Géza, Helbig, Katherine L., Ware, Tyson L., Grinton, Bronwyn, Skraban, Cara M., Marsh, Eric D., Berkovic, Samuel F., Petrou, Steven
Publicado 2020

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl(−) extrusion and dendritic spine formation

por Puskarjov, Martin, Seja, Patricia, Heron, Sarah E, Williams, Tristiana C, Ahmad, Faraz, Iona, Xenia, Oliver, Karen L, Grinton, Bronwyn E, Vutskits, Laszlo, Scheffer, Ingrid E, Petrou, Steven, Blaesse, Peter, Dibbens, Leanne M, Berkovic, Samuel F, Kaila, Kai
Publicado 2014

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

por Ware, Tyson L., Huskins, Shannon R., Grinton, Bronwyn E., Liu, Yu‐Chi, Bennett, Mark F., Harvey, Michael, McMahon, Jacinta, Andreopoulos‐Malikotsinas, Danae, Bahlo, Melanie, Howell, Katherine B., Hildebrand, Michael S., Damiano, John A., Rosenfeld, Alexander, Mackay, Mark T., Mandelstam, Simone, Leventer, Richard J., Harvey, A. Simon, Freeman, Jeremy L., Scheffer, Ingrid E., Jones, Dean L., Berkovic, Samuel F.
Publicado 2019