A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

@article{Bassuk2008AHM,
  title={A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.},
  author={Alexander Gabriel Bassuk and Robyn H. Wallace and Aimee C Buhr and Andrew R Buller and Zaid Afawi and Masahito Shimojo and Shingo Miyata and Shan Chen and Pedro Gonzalez-Alegre and Hilary L. Griesbach and Shu Qing Wu and Marcus B Nashelsky and Eszter K Vladar and Dragana Antic and Polly J Ferguson and Sebahattin Çirak and Thomas Voit and Matthew P Scott and Jeffrey D. Axelrod and Christina A. Gurnett and Azhar S. Daoud and Sara Kivity and Miriam Y. Neufeld and Aziz Mazarib and Rachel Straussberg and Simri Walid and Amos D. Korczyn and Diane C Slusarski and Samuel F. Berkovic and Hatem El-Shanti},
  journal={American journal of human genetics},
  year={2008},
  volume={83 5},
  pages={572-81}
}
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… CONTINUE READING
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