A prickly cause of progressive myoclonic epilepsy

S Warby¹

Affiliations

¹ Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, 950 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4.

Comment

S Warby. Clin Genet. 2009 Mar.

. 2009 Mar;75(3):225-6.

doi: 10.1111/j.1399-0004.2009.01150_1.x.

S Warby¹

¹ Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, 950 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4.

No abstract available

Comment on

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.
Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI. Bassuk AG, et al. Am J Hum Genet. 2008 Nov;83(5):572-81. doi: 10.1016/j.ajhg.2008.10.003. Epub 2008 Oct 30. Am J Hum Genet. 2008. PMID: 18976727 Free PMC article.