Epilepsy Research Journal
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Focal cortical dysplasia (FCD) is a malformation of cortical development that typically presents with childhood epilepsy (Blümcke et al., 2011; Sarnat & Flores-Sarnat, 2014; Sisodiya et al., 2014). Of patients with epilepsy, 5-10% also have FCD (Bast et al., 2006; Leach et al., 2014a). In pediatric cohorts with severe focal epilepsy, such as surgical candidates with drug-resistant epilepsy, up to 50% of patients have magnetic resonance imaging (MRI) visible FCD (Bast et al., 2006; Leach et al., 2014a).
Association of CYP2C9, CYP2A6, ACSM2A, and CPT1A gene polymorphisms with adverse effects of valproic acid in Chinese patients with epilepsy
VPA is a branched short-chain fatty acid that is widely used as a first-line antiepileptic drug. Because of its narrow therapeutic concentration (50–100μgmL−1), therapeutic drug monitoring is common. There are at least three routes of VPA metabolism in humans: β-oxidation in the mitochondria, cytochrome P450(CYP)-mediated oxidation of phase I and glucuronidation of phase II. Hepatotoxicity is the most serious adverse reaction to VPA. The current understanding of VPA hepatotoxicity involves VPA and its unsaturated metabolite 4-ene-VPA, which is activated by ligation to fatty acyl coenzyme A (CoA) via the medium chain acyl-coenzyme A synthetase (ACSM), and then transferred into the mitochondrial matrix with the help of carnitine palmitoyl transferase (CPT).