We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques.
GNAO1 encephalopathy : broadening the phenotype and evaluating treatment and outcome / Danti, F.r., Galosi, S., Romani, M., Montomoli, M., Carss, K.j., Raymond, F.l., Parrini, E., Bianchini, C., Mcshane, T., Dale, R.c., Mohammad, S.s., Shah, U., Mahant, N., Ng, J., Mctague, A., Samanta, R., Vadiamani, G., Valente, E.m., Leuzzi, V., Kurian, M.a., et al.. - In: NEUROLOGY. - ISSN 1526-632X. - ELETTRONICO. - 3:(2017), pp. 3-143. [10.1212/NXG.0000000000000143]
GNAO1 encephalopathy : broadening the phenotype and evaluating treatment and outcome.
Montomoli M;Parrini E;BIANCHINI, CLAUDIA;Guerrini R.
2017
Abstract
We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques.
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