Article
Highlighting the Dystonic Phenotype Related to GNAO1.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2022
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
Abstract excerpt
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 disorders. METHODS: We included patients diagnosed with GNAO1-related movement disorders of delayed onset (>2 years)....
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