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Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive Volume 20, issue 4, August 2018

  • [Arnadottir et al., 2017] Arnadottir G.A., Jensson B.O., Marelsson S.E. Compound heterozygous mutations in causing early-onset epileptic encephalopathy in two sisters. BMC Med Genet. 2017;18:103. UBA5
  • [Colin et al., 2016] Colin E., Daniel J., Ziegler A. Biallelic variants in reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy. Am J Hum Genet. 2016;99:695-703. UBA5
  • [Duan et al., 2016] Duan R., Shi Y., Yu L. mutations cause a new form of autosomal recessive cerebellar ataxia. PLoS One. 2016;11:e0149039. UBA5
  • [Fromer and Purcell, 2014] Fromer M., Purcell S.M. Using XHMM software to detect copy number variation in whole-exome sequencing data. Curr Protoc Hum Genet. 2014;81:7. 23.1-21.
  • [Kodera et al., 2016] Kodera H., Ohba C., Kato M. De novo mutations in Ohtahara and West syndromes. Epilepsia. 2016;57:566-573. GABRA1
  • [Mizuguchi et al., 2017] Mizuguchi T., Nakashima M., Kato M. and mutations in infantile-onset neurodegenerative disorder. J Hum Genet. 2017;62:525-529. PARS2NARS2
  • [Muona et al., 2016] Muona M., Ishimura R., Laari A. Biallelic variants in link dysfunctional UFM1 ubiquitin-like modifier pathway to severe infantile-onset encephalopathy. Am J Hum Genet. 2016;99:683-694. UBA5
  • [Nakashima et al., 2016] Nakashima M., Takano K., Tsuyusaki Y. mutations in three male patients with West syndrome. J Hum Genet. 2016;61:653-661. WDR45
  • [Nord et al., 2011] Nord A.S., Lee M., King M.C. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. 2011;12:184.
  • [Saitsu et al., 2014] Saitsu H., Tohyama J., Walsh T. A girl with West syndrome and autistic features harboring a mutation. J Hum Genet. 2014;59:581-583. de novo TBL1XR1
  • [Tatsumi et al., 2011] Tatsumi K., Yamamoto-Mukai H., Shimizu R. The Ufm1-activating enzyme Uba5 is indispensable for erythroid differentiation in mice. Nat Commun. 2011;2:181.