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A Case of Paroxysmal Exercise-Induced Dyskinesia Expands the Phenotypic spectrum of NAXE-Related Encephalopathy

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Journal of Child Neurology

Published online on

Abstract

Journal of Child Neurology, Ahead of Print.
Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is a rare neurodegenerative disorder caused by pathogenic variants inNAXEgene. Movement disorders are among the clinical features of PEBEL1; however, no case presenting ...