GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: 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,...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5362187/
https://ncbi.nlm.nih.gov/pubmed/28357411
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000143
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