Molecular biomarkers in GNAO1 encephalopathies
Vladimir L.Katanaev1
Jana Valnohova2
1.Translational Research Center in Oncohaematology,Department of Cell Physiology and Metabolism,Faculty of Medicine,University of Geneva,Geneva,Switzerland;Translational Oncology Research Center,Qatar Biomedical Research Institute(QBRI),College of Health and Life Sciences,Hamad Bin Khalifa University(HBKU),Qatar Foundation,Doha,Qatar2.Translational Research Center in Oncohaematology,Department of Cell Physiology and Metabolism,Faculty of Medicine,University of Geneva,Geneva,Switzerland
摘要：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 Gαo,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).
机标关键词：molecularcephnceplopahalopathencebiomarkers
论文发表日期：2026-04-30
在线出版日期：2026-03-25（本平台首次上网日期，不代表文献的发表时间）
页数：2( 1570-1571 )