1. Isom, Lori L. 美国 University of Michigan Medical School 2021美国医学院院士 Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient..
2. Janet Thornton 英国 European Bioinformatics Institute 2003美国科学院院士 Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo..
3. 沈华智 美国 Genentech Incorporated 2023美国医学院院士 GluN2A NMDA Receptor Enhancement Improves Brain Oscillations, Synchrony, and Cognitive Functions in ..
4. Evers, Alex S. 美国 Washington University School of Medicine 2005美国医学院院士 Enhanced GABAergic actions resulting from the coapplication of the steroid 3 alpha-hydroxy-5 alpha-p..
5. Berkovic, Samuel F. 澳大利亚 University of Melbourne 2017美国医学院院士 Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies
6. Isom, Lori L. 美国 University of Michigan Medical School 2021美国医学院院士 Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy
7. Isom, Lori L. 美国 University of Michigan Medical School 2021美国医学院院士 Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathy
8. Macdonald, Robert L. 美国 VANDERBILT University Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defect..
9. Stephen F,Traynelis 美国 Emory University Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- o..
10. Ruggieri, Martino 意大利 University of Catania SCN8A and Its Related Epileptic Phenotypes
11. Michael F,Hammer 美国 University of Arizona Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Cla..
12. 赵世民 中国 复旦大学上海医学院 教授 The Canonical and Noncanonical Functions of Aminoacyl-tRNA Synthetases
13. Ingrid E,Scheffer 澳大利亚 University of Melbourne Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developm..
14. Stephen F,Traynelis 美国 Emory University Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
15. Macdonald, Robert L. 美国 VANDERBILT University GABRG2 Variants Associated with Febrile Seizures
16. Ruggieri, Martino 意大利 University of Catania Impressive efficacy of the ketogenic diet in a KCNQ2 encephalopathy infant: a case report and exhaus..
17. Renzo,Guerrini 意大利 University of Florence Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
18. Fabio,Benfenati 意大利 University of Genoa Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
19. Kieffer, Brigitte Lina 加拿大 McGill University Zn2+ inhibits spatial memory and hippocampal place cell representation through high-affinity binding..
20. Pierre,Paoletti 法国 Institute Biology Zn2+ inhibits spatial memory and hippocampal place cell representation through high-affinity binding..