EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease

por Calame, Daniel G., Hainlen, Meagan, Takacs, Danielle, Ferrante, Leah, Pence, Kayla, Emrick, Lisa T., Chao, Hsiao-Tuan
Publicado 2020

KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine

por Müller, Peter, Takacs, Danielle S., Hedrich, Ulrike B. S., Coorg, Rohini, Masters, Laura, Glinton, Kevin E., Dai, Hongzheng, Cokley, Jon A., Riviello, James J., Lerche, Holger, Cooper, Edward C.
Publicado 2023