Author
Northwestern UniversityORCID 0009-0002-6606-2055Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Carlos G. Vanoye, Tatiana V. Abramova, Jean‐Marc DeKeyser…·Alfred L. George
This study examines how alternative splicing and cellular context affect the functional properties of SCN8A variants associated with neurodevelopmental disorders.
Christopher H. Thompson, Franck Potet, Tatiana V Abramova…·Alfred L. George
The paper assesses functional properties of SCN2A variants using automated patch clamp recording, revealing complex gain- and loss-of-function patterns beyond a simple binary classification.
Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji…·Alfred L. George
This study evaluates 79 KCNQ2 variants using automated patch clamp recording, revealing functional and pharmacological heterogeneity and genotype-dependent retigabine responses.