A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function?
Yuanyuan Liu, Mahmoud Koko, Holger Lerche
Topics & Concepts
Sodium channelEpilepsyNeuroblastomaMissense mutationTransfectionElectrophysiologyNeuroscienceWild typeInternal medicineEndocrinologyChemistryMutantPhenotypeBiologyMedicineGeneCell cultureGeneticsSodiumOrganic chemistryIon channel regulation and functionNeuroscience and Neuropharmacology ResearchEpilepsy research and treatment