Highlighting the Dystonic Phenotype Related to GNAO1

BACKGROUND: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early‐onset epileptic encephalopathy and/or chorea. OBJECTIVE: The aim was to characterize the clinical and genetic features of patients with mild GNAO1‐related phenotype with prominent movement di...

Descripción completa

Detalles Bibliográficos
Autores principales: Wirth, Thomas, Garone, Giacomo, Kurian, Manju A., Piton, Amélie, Millan, Francisca, Telegrafi, Aida, Drouot, Nathalie, Rudolf, Gabrielle, Chelly, Jamel, Marks, Warren, Burglen, Lydie, Demailly, Diane, Coubes, Phillipe, Castro‐Jimenez, Mayte, Joriot, Sylvie, Ghoumid, Jamal, Belin, Jérémie, Faucheux, Jean‐Marc, Blumkin, Lubov, Hull, Mariam, Parnes, Mered, Ravelli, Claudia, Poulen, Gaëtan, Calmels, Nadège, Nemeth, Andrea H., Smith, Martin, Barnicoat, Angela, Ewenczyk, Claire, Méneret, Aurélie, Roze, Emmanuel, Keren, Boris, Mignot, Cyril, Beroud, Christophe, Acosta, Fernando, Nowak, Catherine, Wilson, William G., Steel, Dora, Capuano, Alessandro, Vidailhet, Marie, Lin, Jean‐Pierre, Tranchant, Christine, Cif, Laura, Doummar, Diane, Anheim, Mathieu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Regular Issue Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545634/
https://www.ncbi.nlm.nih.gov/pubmed/35722775
http://dx.doi.org/10.1002/mds.29074

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545634/
https://www.ncbi.nlm.nih.gov/pubmed/35722775
http://dx.doi.org/10.1002/mds.29074

Ejemplares similares