Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.

@article{Misra2008ImpairedNF,
  title={Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.},
  author={Sunita N. Misra and Kristopher M. Kahlig and Alfred L. George},
  journal={Epilepsia},
  year={2008},
  volume={49 9},
  pages={1535-45}
}
PURPOSE Mutations in SCN2A, the gene encoding the brain voltage-gated sodium channel alpha-subunit Na(V)1.2, are associated with inherited epilepsies including benign familial neonatal-infantile seizures (BFNIS). Functional characterization of three BFNIS mutations was performed to identify defects in channel function that underlie this disease. METHODS We examined three BFNIS mutations (R1319Q, L1330F, and L1563V) using whole-cell patch-clamp recording of heterologously expressed human Na(V… CONTINUE READING

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