UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family

@inproceedings{Kato2012UBR5G,
  title={
UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family},
  author={Takeo Kato and Gen Tamiya and Shingo Koyama and Tomohiro Nakamura and Satoshi Makino and Shigeki Arawaka and Toru Kawanami and Ikuo Tooyama},
  booktitle={ISRN neurology},
  year={2012}
}
The causal gene(s) for familial adult myoclonic epilepsy (FAME) remains undetermined. To identify it, an exome analysis was performed for the proband in a Japanese FAME family. Of the 383 missense/nonsense variants examined, only c.5720G>A mutation (p.Arg1907His) in the UBR5 gene was found in all of the affected individuals in the family, but not in the nonaffected members. Such mutation was not found in any of the 85 healthy individuals in the same community nor in any of the 24 individuals of… CONTINUE READING

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