Comment

. 2016 Mar 3;98(3):588-589.

doi: 10.1016/j.ajhg.2016.01.009.

PRICKLE2 Mutations Might Not Be Involved in Epilepsy

Erin Sandford¹, Thomas D Bird², Jun Z Li³, Margit Burmeister⁴

Affiliations

¹ Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI 48109, USA.
² Department of Neurology, University of Washington, Seattle, WA 98195, USA; Department of Medicine (Medical Genetics), University of Washington, Seattle, WA 98195, USA; Geriatric Research, Education, and Clinical Center, VA Puget Sound Health Care System, Seattle, WA 98101, USA.
³ Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA.
⁴ Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Psychiatry, University of Michigan, Ann Arbor, MI 48109, USA. Electronic address: margit@umich.edu.

PMID: 26942291
PMCID: PMC4800039
DOI: 10.1016/j.ajhg.2016.01.009

Comment

PRICKLE2 Mutations Might Not Be Involved in Epilepsy

Erin Sandford et al. Am J Hum Genet. 2016.

. 2016 Mar 3;98(3):588-589.

doi: 10.1016/j.ajhg.2016.01.009.

Authors

Erin Sandford¹, Thomas D Bird², Jun Z Li³, Margit Burmeister⁴

Affiliations

¹ Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI 48109, USA.
² Department of Neurology, University of Washington, Seattle, WA 98195, USA; Department of Medicine (Medical Genetics), University of Washington, Seattle, WA 98195, USA; Geriatric Research, Education, and Clinical Center, VA Puget Sound Health Care System, Seattle, WA 98101, USA.
³ Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA.
⁴ Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Psychiatry, University of Michigan, Ann Arbor, MI 48109, USA. Electronic address: margit@umich.edu.

PMID: 26942291
PMCID: PMC4800039
DOI: 10.1016/j.ajhg.2016.01.009

No abstract available

PubMed Disclaimer

Comment in

Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine.
Mahajan VB, Bassuk AG. Mahajan VB, et al. Am J Hum Genet. 2016 Mar 3;98(3):590-591. doi: 10.1016/j.ajhg.2016.02.002. Am J Hum Genet. 2016. PMID: 26942292 Free PMC article. No abstract available.

Comment on

Mutations in prickle orthologs cause seizures in flies, mice, and humans.
Tao H, Manak JR, Sowers L, Mei X, Kiyonari H, Abe T, Dahdaleh NS, Yang T, Wu S, Chen S, Fox MH, Gurnett C, Montine T, Bird T, Shaffer LG, Rosenfeld JA, McConnell J, Madan-Khetarpal S, Berry-Kravis E, Griesbach H, Saneto RP, Scott MP, Antic D, Reed J, Boland R, Ehaideb SN, El-Shanti H, Mahajan VB, Ferguson PJ, Axelrod JD, Lehesjoki AE, Fritzsch B, Slusarski DC, Wemmie J, Ueno N, Bassuk AG. Tao H, et al. Am J Hum Genet. 2011 Feb 11;88(2):138-49. doi: 10.1016/j.ajhg.2010.12.012. Epub 2011 Feb 3. Am J Hum Genet. 2011. PMID: 21276947 Free PMC article.

References

1. Tao H., Manak J.R., Sowers L., Mei X., Kiyonari H., Abe T., Dahdaleh N.S., Yang T., Wu S., Chen S. Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am. J. Hum. Genet. 2011;88:138–149. - PMC - PubMed
1. Bassuk A.G., Wallace R.H., Buhr A., Buller A.R., Afawi Z., Shimojo M., Miyata S., Chen S., Gonzalez-Alegre P., Griesbach H.L. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am. J. Hum. Genet. 2008;83:572–581. - PMC - PubMed
1. Bird T.D., Shaw C.M. Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome. J. Neurol. Neurosurg. Psychiatry. 1978;41:140–149. - PMC - PubMed
1. Paus S., Zsurka G., Baron M., Deschauer M., Bamberg C., Klockgether T., Kunz W.S., Kornblum C. Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. Mov. Disord. 2008;23:1286–1288. - PubMed
1. Roshal D., Glosser D., Zangaladze A. Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. Epilepsy Behav. 2011;21:206–210. - PubMed

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PRICKLE2 Mutations Might Not Be Involved in Epilepsy

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PRICKLE2 Mutations Might Not Be Involved in Epilepsy

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