A prickly cause of progressive myoclonic epilepsy |
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Authors: | S Warby |
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Institution: | Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, 950 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4. e-mail: |
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Abstract: | A homozygous mutation in human PRICKLE1 causes an autosomal-recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome Bassuk et al. (2008) American Journal of Human Genetics 83: 1–10. |
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