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Progressive Myoclonus Epilepsies

12 Nov 2021

Abstract excerpt

BACKGROUND AND OBJECTIVES: To assess the current diagnostic yield of genetic testing for the progressive myoclonus epilepsies (PMEs) of an Italian series described in 2014 where Unverricht-Lundborg and Lafora diseases accounted for ∼50% of the cohort. METHODS: Of 47/165 unrelated patients with PME of indeterminate genetic origin, 38 underwent new molecular evaluations. Various next-generation sequencing (NGS)...

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PMID: 34786481
DOI: 10.1212/nxg.0000000000000641

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