Diverse faces of GNAO1: mild forms in epilepsy and autism
Author:
Funder
NIH
Goverment of Navarra
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00415-024-12418-w.pdf
Reference7 articles.
1. Domínguez-Carral J, Ludlam WG, Junyent Segarra M et al (2023) Severity of GNAO1-related disorder correlates with changes in G-protein function. Ann. Neurol. 94(5):987–1004
2. Sáez González M, Kloosterhuis K, van de Pol L et al (2023) Phenotypic diversity in GNAO1 patients: a comprehensive overview of variants and phenotypes. Hum Mutat 2023:1–16
3. Muntean BS, Masuho I, Dao M, Sutton LP, Zucca S, Iwamoto H, Patil DN, Wang D, Birnbaumer L, Blakely RD, Grill BMK (2021) Gαo is a major determinant of cAMP signaling in the pathophysiology of movement disorders. Cell Rep 34(5):108718
4. Carecchio M, Invernizzi F, Gonzàlez-Latapi P et al (2019) Frequency and phenotypic spectrum of KMT2B dystonia in childhood: a single-center cohort study. Mov Disord 34(10):1516–1527
5. Wirth T, Garone G, Kurian MA et al (2022) Highlighting the dystonic phenotype related to GNAO1. Mov Disord 37(7):1547–1554
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