The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy

por Whitney, Robyn, Jain, Puneet, RamachandranNair, Rajesh, Jones, Kevin C., Kiani, Hassan, Tarnopolsky, Mark, Meaney, Brandon
Publicado 2023

Significant vomiting and weight loss in a pediatric epilepsy patient secondary to vagus nerve stimulation: A case report and review of the literature

por Snyder, Hannah E., Pai, Nikhil, Meaney, Brandon, Sloan Birbeck, Cynthia, Whitney, Robyn, Johnson, Natasha, Rosato, Laura, Jones, Kevin
Publicado 2023

A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy

por Cömert, Cagla, Brick, Lauren, Ang, Debbie, Palmfeldt, Johan, Meaney, Brandon F., Kozenko, Mariya, Georgopoulos, Costa, Fernandez-Guerra, Paula, Bross, Peter
Publicado 2020

Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity

por Rychkov, Grigori Y., Shaukat, Zeeshan, Lim, Chiao Xin, Hussain, Rashid, Roberts, Ben J., Bonardi, Claudia M., Rubboli, Guido, Meaney, Brandon F., Whitney, Robyn, Møller, Rikke S., Ricos, Michael G., Dibbens, Leanne M.
Publicado 2022