We report the clinical history of a boy, affected by early-onset epileptic encephalopathy with an episode of phenytoin neurotoxicity, found by whole exome sequencing to carry a previously undescribed mutation of the STXBP1 gene, combined with two heterozygous missense mutations in the same exon of the CYP2C9 gene. Highlights: - 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. - in patients with genetic epileptic encephalopthies refractory to therapy, whole exome sequencing may help disclose co-mutations in genes coding for drug metabolizing enzymes.

Phenytoin neurotoxicity in a child carrying new STXBP1 and CYP2C9 gene mutations.

GUACCI, ANNA;CHETTA , MASSIMILIANO;RIZZO, FRANCESCA;MARCHESE, GIOVANNA;GIURATO, GIORGIO;NASSA, GIOVANNI;RAVO, MARIA;TARALLO, ROBERTA;WEISZ, Alessandro;COPPOLA, Giangennaro
2016

Abstract

We report the clinical history of a boy, affected by early-onset epileptic encephalopathy with an episode of phenytoin neurotoxicity, found by whole exome sequencing to carry a previously undescribed mutation of the STXBP1 gene, combined with two heterozygous missense mutations in the same exon of the CYP2C9 gene. Highlights: - 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. - in patients with genetic epileptic encephalopthies refractory to therapy, whole exome sequencing may help disclose co-mutations in genes coding for drug metabolizing enzymes.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11386/4654479
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