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, Fr; Galosi, S; Romani, M; Montomoli, M; Carss, Kj; Raymond, Fl; Parrini, E; Bianchini, C; Mcshane, T; Dale, Rc; Mohammad, Ss; Shah, U; Mahant, N; Ng, J; Mctague, A; Samanta, R; Vadiamani, G; Valente, Em; Leuzzi, V; Kurian, Ma; Guerrini, R.. - 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.
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.
| File | Dimensione | Formato | |
|---|---|---|---|
|
e143.full.pdf
accesso aperto
Tipologia:
Pdf editoriale (Version of record)
Licenza:
Creative commons
Dimensione
838.78 kB
Formato
Adobe PDF
|
838.78 kB | Adobe PDF |
I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
