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Short Communication

A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder

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Pages 313-315 | Received 30 Mar 2018, Accepted 25 Apr 2018, Published online: 23 May 2018

References

  • Bassuk, A.G., & Sherr, E.H. (2015). A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria. Journal of Neurogenetics, 29, 174–177. doi:10.3109/01677063.2015.1088847
  • Bassuk, A.G., Wallace, R.H., Buhr, A., Buller, A.R., Afawi, Z., Shimojo, M., … El-Shanti, H.I. (2008). A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. American Journal of Human Genetics, 83, 572–581. doi:10.1016/j.ajhg.2008.10.003
  • Bosoi, C.M., Capra, V., Allache, R., Trinh, V.Q., De Marco, P., Merello, E., … Kibar, Z. (2011). Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. Human Mutatation, 32, 1371–1375. doi:10.1002/humu.21589
  • Ehaideb, S.N., Iyengar, A., Ueda, A., Iacobucci, G.J., Cranston, C., Bassuk, A.G., … Manak, J.R. (2014). Prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies. Proceedings of National Academy of Sciences USA, 111, 11187–11192. doi:10.1073/pnas.1403357111
  • Paemka, L., Mahajan, V.B., Skeie, J.M., Sowers, L.P., Ehaideb, S.N., Gonzalez-Alegre, P., … Bassuk, A.G. (2013). PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders. PLoS One, 8, e80737. doi:10.1371/journal.pone.0080737
  • Pehlivan, D., Beck, C.R., Okamoto, Y., Harel, T., Akdemir, Z.H.C., Jhangiani, S.N., … Lupski, J.R. (2016). The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genetics in Medicine, 18, 443–451. doi:10.1038/gim.2015.124
  • Tao, H., Manak, J.R., Sowers, L., Mei, X., Kiyonari, H., Abe, T., … Bassuk, A.G. (2011). Mutations in prickle orthologs cause seizures in flies, mice, and humans. American Journal of Human Genetics, 88, 138–149. doi:10.1016/j.ajhg.2010.12.012

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