Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.

@article{Jen2005MutationIT,
  title={Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.},
  author={Joanna C Jen and Jijun Wan and Teresa P Palos and Bruce D. Howard and Robert W. Baloh},
  journal={Neurology},
  year={2005},
  volume={65 4},
  pages={529-34}
}
BACKGROUND Transporters, ion pumps, and ion channels are membrane proteins that regulate selective permeability and maintain ionic gradients across cell membranes. Mutations in CACNA1A encoding a neuronal calcium channel and ATP1A2 encoding an ion pump cause episodic ataxia, hemiplegic migraine, and seizures. Mutant gene products of both CACNA1A and ATP1A2 may affect neurotransmission of glutamate, the most abundant excitatory amino acid neurotransmitter. METHODS We examined our patient… CONTINUE READING
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