Novel Mutation at Cys225 in GNAO1‐Associated Developmental and Epileptic Encephalopathies: Clinical, Molecular, and Pharmacological Profiling of Case Studies

Novel Mutation at Cys225 in GNAO1‐Associated Developmental and Epileptic Encephalopathies: Clinical, Molecular, and Pharmacological Profiling of Case Studies

ABSTRACT GNAO1‐associated disorders have a large spectrum of neurological symptoms, from early‐onset developmental and epileptic encephalopathies (DEE) to late‐onset movement disorders. First reported in 2013 and now identified in around 400 cases worldwide, this disease is caused by dominant, mostl...

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Main Authors: Yonika A. Larasati, Gonzalo P. Solis, Alexey Koval, Marie‐Céline François‐Heude, Julie Piarroux, Agathe Roubertie, Ruihan Yang, Ying Zhang, Dezhi Cao, Christian M. Korff, Vladimir L. Katanaev
Format: Article
Language:English
Published: Wiley 2025-05-01
Series:MedComm
Subjects:
developmental and epileptic encephalopathies
G protein
GNAO1
molecular etiology
neomorphic mutations
rare disease
Online Access:https://doi.org/10.1002/mco2.70196
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