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Neurology. 2020 Dec 8;95(23):e3117-e3123. doi: 10.1212/WNL.0000000000010911. Epub 2020 Sep 17.
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Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy.
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First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea.
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A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients.
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Long-term follow-up of cortical hyperexcitability in Japanese Unverricht-Lundborg disease.
Seizure. 2014 Oct;23(9):746-50. doi: 10.1016/j.seizure.2014.06.002. Epub 2014 Jun 25.
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Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.
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The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
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Clinical picture of EPM1-Unverricht-Lundborg disease.
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Familial Unverricht-Lundborg disease: a clinical, neurophysiologic, and genetic study.
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