Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency

Abstract

We assessed the clinical characteristics and efficacy of neurotransmitters and levetiracetam in a patient with hyperphenylalaninemia due to dihydropteridine reductase (DHPR) deficiency who developed epileptic seizures. A boy with DHPR deficiency, who had been successfully treated with tetrahydrobiopterin (BH4), levodopa, and 5-hydroxytryptophan (5-HTP… (More)
DOI: 10.1016/j.ebcr.2014.01.007

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