A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function?

Abstract excerpt

SCN8A, encoding the voltage-gated sodium channel subunit NaV1.6, has been associated with a wide spectrum of neuropsychiatric disorders. Missense variants in SCN8A which increase the channel activity can cause a severe developmental and epileptic encephalopathy (DEE). One DEE variant (p.(Arg223Gly)) was described to cause a predominant loss-of-function (LOF) mechanism when expressed in neuroblastoma cells, which...

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• Action Potentials
• Epilepsy
• Gain of Function Mutation
• Membrane Potentials
• Mutation