Genetic Conditions > PRICKLE1-related progressive myoclonus epilepsy with ataxia >

References

These sources were used to develop the Genetics Home Reference condition summary on PRICKLE1-related progressive myoclonus epilepsy with ataxia.

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. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83(5):572-81. doi: 10.1016/j.ajhg.2008.10.003. Epub 2008 Oct 30. PubMed citation
Berkovic SF, Mazarib A, Walid S, Neufeld MY, Manelis J, Nevo Y, Korczyn AD, Yin J, Xiong L, Pandolfo M, Mulley JC, Wallace RH. A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. Brain. 2005 Mar;128(Pt 3):652-8. Epub 2005 Jan 5. PubMed citation
El-Shanti H, Daoud A, Sadoon AA, Leal SM, Chen S, Lee K, Spiegel R. A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan. Brain Dev. 2006 Jul;28(6):353-7. Epub 2006 Jan 10. PubMed citation
Gene Review: PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
Straussberg R, Basel-Vanagaite L, Kivity S, Dabby R, Cirak S, Nurnberg P, Voit T, Mahajnah M, Inbar D, Saifi GM, Lupski JR, Delague V, Megarbane A, Richter A, Leshinsky E, Berkovic SF. An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology. 2005 Jan 11;64(1):142-4. PubMed citation

Reviewed: December 2011

Published: June 17, 2013