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American Journal of Human Genetics, The (AJHG) (älter als 6 Monate)
0002-9297 Vol.83, 5(2008)
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, and Hatem I. El-Shanti
 Abstract:Progressive myoclonus epilepsy (PME) is a syndrome characterized by myoclonic seizures (lightning-like jerks), generalized convulsive seizures, and varying degrees of neurological decline, especially ataxia and dementia. Previously, we characterized three pedigrees of individuals with PME and ataxia, where either clinical features or linkage mapping excluded known PME loci. This report identifies a mutation in PRICKLE1 (also known as RILP for REST/NRSF interacting LIM domain protein) in all three of these pedigrees. The identified PRICKLE1 mutation blocks the PRICKLE1 and REST interaction in vitro and disrupts the normal function of PRICKLE1 in an in vivo zebrafish overexpression system. PRICKLE1 is expressed in brain regions implicated in epilepsy and ataxia in mice and humans, and, to our knowledge, is the first molecule in the noncanonical WNT signaling pathway to be directly implicated in human epilepsy.
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