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•A new mutation in STXBP1 gene in a patient with a clinical history of Ohtahara syndrome and a severe adverse reaction to phenytoin, co-occurring with compound heterozygous mutations in CYP2C9 gene.•To the best of our knowledge, there are no previous report on the co-occurrence of mutations in the STXBP1 gene and variants of the CYP2C9 gene.•In patients with genetic epileptic encephalopthies refractory...
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