A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.

@article{Tang2009ABT,
  title={A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.},
  author={Bin Tang and Karoni Dutt and Ligia Assumpç{\~a}o Papale and Raffaella Rusconi and Anupama Shankar and Jessica Ezzell Hunter and Sergio Brasil Tufik and Frank H. Yu and William A. Catterall and Massimo Mantegazza and Alan L. Goldin and Andrew Escayg},
  journal={Neurobiology of disease},
  year={2009},
  volume={35 1},
  pages={91-102}
}
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, R1648H. Mice with the R1648H mutation exhibit a more severe response to the… CONTINUE READING
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91–102 and prevalence of variants in patients with epilepsy

  • B. Tang
  • Neurobiology of Disease
  • 2009
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