GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

par Danti, Federica Rachele, Galosi, Serena, Romani, Marta, Montomoli, Martino, Carss, Keren J., Raymond, F. Lucy, Parrini, Elena, Bianchini, Claudia, McShane, Tony, Dale, Russell C., Mohammad, Shekeeb S., Shah, Ubaid, Mahant, Neil, Ng, Joanne, McTague, Amy, Samanta, Rajib, Vadlamani, Gayatri, Valente, Enza Maria, Leuzzi, Vincenzo, Kurian, Manju A., Guerrini, Renzo
Publié dans Neurol Genet (2017)

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

par McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V., Papandreou, Apostolos, Ngoh, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V., Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H., Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E., Chong, W.K. “Kling”, Cross, J. Helen, Topf, Maya, Petrou, Steven, Kurian, Manju A.
Publié dans Neurology (2018)