Highlighting the Dystonic Phenotype Related to GNAO1

Wirth, T; Garone, G; Kurian, MA; Piton, A; Millan, F; Telegrafi, A; Drouot, N; Rudolf, G; Chelly, J; Marks, W; Burglen, L; Demailly, D; Coubes, P; Castro-Jimenez, M; Joriot, S; Ghoumid, J; Belin, J; Faucheux, JM; Blumkin, L; Hull, M; Parnes, M; Ravelli, C; Poulen, G; Calmels, N; Nemeth, AH; Smith, M; Barnicoat, A; Ewenczyk, C; Meneret, A; Roze, E; Keren, B; Mignot, C; Beroud, C; Acosta, F; Nowak, C; Wilson, WG; Steel, D; Capuano, A; Vidailhet, M; Lin, JP; Tranchant, C; Cif, L; Doummar, D; Anheim, M

Wirth, T (通讯作者)，Hop Univ Strasbourg, Dept Neurol, Hop Hautepierre, 1 Ave Moliere, F-67098 Strasbourg, France.

MOVEMENT DISORDERS, 2022; 37 (7): 1547

Abstract

Background Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chor......

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