We read with interest Jose et al’s article about a single-center cohort study on the frequency and etiology of metabolic disorders in 385 pediatric patients with developmental epileptic encephalopathy (DEE) and treatment-refractory epilepsy [1]. A probable or possible metabolic disorder was suspected in 89/385 patients [1]. A pathogenic or likely pathogenic variant in genes associated with metabolic disorder was detected in 39/89 patients, and a variant of unknown significance in 28/89 patients [1].
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