The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.

@article{Kang2004TheGR,
  title={The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.},
  author={J H Kang and Robert L Macdonald},
  journal={The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year={2004},
  volume={24 40},
  pages={8672-7}
}
The GABA(A) receptor gamma2 subunit mutation R43Q is an autosomal dominant mutation associated with childhood absence epilepsy and febrile seizures. Previously, we demonstrated that homozygous alpha1beta3gamma2L(R43Q) receptor whole-cell currents had reduced amplitude with unaltered time course, suggesting reduced cell surface expression of functional receptors. In human embryonic kidney 293-T cells, we demonstrate that both heterozygous and homozygous alpha1beta2gamma2S(R43Q) GABA(A) receptor… CONTINUE READING
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