Molecular and cellular context influences SCN8A variant function.

Autor: Vanoye CG; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Abramova TV; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., DeKeyser JM; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Ghabra NF; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Oudin MJ; Department of Biomedical Engineering, Tufts University, Medford, Massachusetts, USA., Burge CB; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Thompson CH; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., George AL Jr; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

Publikováno v: JCI insight [JCI Insight] 2024 May 21; Vol. 9 (12). Date of Electronic Publication: 2024 May 21.

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.

Autor: Thompson CH; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Potet F; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Abramova TV; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., DeKeyser JM; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Ghabra NF; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Vanoye CG; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Millichap JJ; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., George AL; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

Publikováno v: The Journal of general physiology [J Gen Physiol] 2023 Oct 02; Vol. 155 (10). Date of Electronic Publication: 2023 Aug 14.