title: Unusual side-effects due to clobazam: a case report with genetic study of CYP2C19.
abstract: We describe the case of a 10-year-old girl with two epileptic seizures and subcontinuous spike-waves during sleep, who presented unusual side-effects related to clobazam (CLB) monotherapy. High plasma levels of N-desmethyl-clobazam (N-CLB), the major metabolite of CLB were detected. The patient and her parents underwent molecular analysis of the CYP2C19 gene, which may be implicated in the metabolism of this drug. Our patient presents one copy of the most common mutation (CYP2C19*2) affecting the activity of the isoenzyme and probably another rare or private mutation. CLB and N-CLB plasma level dosages and molecular analysis may be useful when a poor metabolic condition is suspected.
authors.affiliation: Child Neurology and Psychiatry Unit, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, 40123, Bologna, Italy
authors.forename: Antonia
authors.initials: A
authors.lastname: Parmeggiani
authors.forename: Annio
authors.initials: A
authors.lastname: Posar
authors.forename: Simonetta
authors.initials: S
authors.lastname: Sangiorgi
authors.forename: Paola
authors.initials: P
authors.lastname: Giovanardi-Rossi
mesh_terms: D000927:Anticonvulsants / Q000009:adverse effects* / Q000378:metabolism; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D001569:Benzodiazepines / Q000009:adverse effects* / Q000097:blood / Q000378:metabolism; D002648:Child; D000078306:Clobazam; D065731:Cytochrome P-450 CYP2C19; D020920:Dyssomnias / Q000188:drug therapy; D004569:Electroencephalography; D004775:Enuresis / Q000139:chemically induced; D004827:Epilepsy / Q000139:chemically induced* / Q000503:physiopathology; D005260:Female; D006801:Humans; D006899:Mixed Function Oxygenases / Q000235:genetics*; D009154:Mutation
chemical_list: D000927:Anticonvulsants; D001569:Benzodiazepines; D000078306:Clobazam; D006899:Mixed Function Oxygenases; D001189:Aryl Hydrocarbon Hydroxylases; C045793:CYP2C19 protein, human; D065731:Cytochrome P-450 CYP2C19; C024581:N-desmethylclobazam