Publication
A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
Alexander G. Bassuk, Robyn H. Wallace, Aimee Buhr, Andrew R. Buller, Zaid Afawi, Masahito Shimojo, Shingo Miyata, Shan Chen, Pedro Gonzalez-Alegre, Hilary L. Griesbach, Shu Wu, Marcus Nashelsky, Eszter K. Vladar, Dragana Antic, Polly J. Ferguson, Sebahattin Cirak, Thomas Voit, Matthew P. Scott, Jeffrey D. Axelrod, Christina Gurnett, Azhar S. Daoud, Sara Kivity, Miriam Y. Neufeld, Aziz Mazarib, Rachel Straussberg, Simri Walid, Amos D. Korczyn, Diane C. Slusarski, Samuel F. Berkovic, Hatem I. El-Shanti
The American Journal of Human Genetics, November 2008, Elsevier
DOI: 10.1016/j.ajhg.2008.10.003