Article
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.
Neurobiology of disease - 1 Jul 2009
Tang Bin, Dutt Karoni, Papale Ligia, Rusconi Raffaella, Shankar Anupama, Hunter Jessica, Tufik Sergio, Yu Frank H, Catterall William A, Mantegazza Massimo, Goldin Alan L, Escayg Andrew
Abstract excerpt
Mutations in the voltage-gated sodium channel SCN1A are responsible for a number of seizure disorders including Generalized Epilepsy with Febrile Seizures Plus (GEFS+) and Severe Myoclonic Epilepsy of Infancy (SMEI). To determine the effects of SCN1A mutations on channel function in vivo, we generated a bacterial artificial chromosome (BAC) transgenic mouse model that expresses the human SCN1A GEFS+ mutation,...
Topics
- Animals
- Animals, Newborn
- Arginine
- Biophysical Phenomena
- Cells, Cultured
- Chromosomes, Artificial, Bacterial
- Disease Models, Animal
- Dose-Response Relationship, Drug
- Electroencephalography