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Article

PRRT 2 missense mutations cluster near C‐terminus and frequently lead to protein mislocalization

13 Apr 2019

Abstract excerpt

OBJECTIVE: Variants in human PRRT2 cause paroxysmal kinesigenic dyskinesia (PKD) and other neurological disorders. Most reported variants resulting in truncating proteins failed to localize to cytoplasmic membrane. The present study identifies novel PRRT2 variants in PKD and epilepsy patients and evaluates the functional consequences of PRRT2 missense variations. METHODS: We investigated two families with PKD and...

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PMID: 30980674
DOI: 10.1111/epi.14725

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