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ObjectiveTo present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA‐PME), a rare condition caused by mutations in the N‐acylsphingosine amidohydrosilase 1 (ASAH1) gene.
MethodsThe patients were submitted to clinical evaluation, neurophysiologic investigations (that included wakefulness...
Purpose: Mutations of the SCARB2 gene cause action myoclonus renal failure syndrome (AMRF), a rare condition that combines progressive myoclonus epilepsy (PME) with severe renal dysfunction. We describe the clinical and neurophysiologic features of PME associated with SCARB2 mutations without renal impairment.
Methods: Clinical and neurophysiologic investigations, including wakefulness and sleep...
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