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Molecular biomarkers in GNAO1 encephalopathies
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作者 Vladimir L.Katanaev Jana Valnohova 《Neural Regeneration Research》 2026年第4期1570-1571,共2页
GNAO1-associated disorder is a rare disease and an example of developmental and epileptic encephalopathies.Caused by ca.150 different dominant missense mutations in the gene encoding the major neuronal G protein Gao,i... GNAO1-associated disorder is a rare disease and an example of developmental and epileptic encephalopathies.Caused by ca.150 different dominant missense mutations in the gene encoding the major neuronal G protein Gao,it spans a wide range of neurological clinical manifestations,that may include epileptic seizures,motor dysfunctions,developmental and intellectual delay,and other symptoms(Sáez González et al.,2023). 展开更多
关键词 epileptic seizuresmotor dysfunctionsdevelopmental developmental epileptic encephalopathiescaused major neuronal g protein neurological clinical manifestations molecular biomarkers GNAO encephalopathies developmental epileptic encephalopathies missense mutations
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