Late-onset episodic ataxia associated with SLC1A3 mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/jhg2016137.pdf
Reference21 articles.
1. Jen, J. C., Graves, T. D., Hess, E. J., Hanna, M. G., Griggs, R. C., Baloh, R. W. et al. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 130, 2484–2493 (2007).
2. de Vries, B., Mamsa, H., Stam, A. H., Wan, J., Bakker, S. L., Vanmolkot, K. R. et al. Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch. Neurol. 66, 97–101 (2009).
3. Jen, J. C., Wan, J., Palos, T. P., Howard, B. D. & Baloh, R. W. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 65, 529–534 (2005).
4. Banner, S. J., Fray, A. E., Ince, P. G., Steward, M., Cookson, M. R. & Shaw, P. J. The expression of the glutamate re-uptake transporter excitatory amino acid transporter 1 (EAAT1) in the normal human CNS and in motor neurone disease: an immunohistochemical study. Neuroscience 109, 27–44 (2002).
5. Jiang, J. & Amara, S. G. New views of glutamate transporter structure and function: advances and challenges. Neuropharmacology 60, 172–181 (2011).
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