A novel mutation in SLC1A3 causes episodic ataxia

@article{Iwama2017ANM,
  title={A novel mutation in SLC1A3 causes episodic ataxia},
  author={Kazuhiro Iwama and Aya Iwata and Masaaki Shiina and Satomi Mitsuhashi and Satoko Miyatake and Atsushi Takata and Noriko Miyake and Kazuhiro Ogata and Shuichi Ito and Takeshi Mizuguchi and Naomichi Matsumoto},
  journal={Journal of Human Genetics},
  year={2017},
  volume={63},
  pages={207-211}
}
Episodic ataxias (EAs) are rare channelopathies characterized by recurrent ataxia and vertigo, having eight subtypes. Mutated genes were found in four of these eight subtypes (EA1, EA2, EA5, and EA6). To date, only four missense mutations in the Solute Carrier Family 1 Member 3 gene (SLC1A3) have been reported to cause EA6. SLC1A3 encodes excitatory amino… CONTINUE READING