A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

TitleA Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
Publication TypeJournal Article
Year of Publication2008
AuthorsBassuk, 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
JournalAmerican Journal of Human Genetics
Volume83
Pagination572-581
Date PublishedNov
ISBN Number0002-9297
DOI10.1016/j.ajhg.2008.10.003