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

Overview of attention for article published in American Journal of Human Genetics, October 2008

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So far, Altmetric has seen 4 citations on 4 Wikipedia pages.

PRICKLE1-related progressive myoclonus epilepsy with ataxia is a very rare genetic disorder which is characterized by myoclonic epilepsy and ataxia.

Prickle planar cell polarity protein 1 is a protein that in humans is encoded by the PRICKLE1 gene.

Prickle is also known as REST/NRSF-interacting LIM domain protein, which is a putative nuclear translocation receptor.

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