Has Progress Been Made in Progressive Myoclonic Epilepsy (EPM1)?
作者信息
Perry M Scott
出版信息
Epilepsy Curr. 2015 Sep-Oct;15(5):253-4. doi: 10.5698/1535-7511-15.5.253.
Abstract
摘要
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Has Progress Been Made in Progressive Myoclonic Epilepsy (EPM1)?
Epilepsy Curr. 2015 Sep-Oct;15(5):253-4. doi: 10.5698/1535-7511-15.5.253.
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Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study.
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A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.
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