Phenytoin neurotoxicity in a child carrying new STXBP1 and CYP2C9 gene mutations
Phenytoin neurotoxicity in a child carrying new STXBP1 and CYP2C9 gene mutations
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DOI：
10.1016/j.seizure.2015.11.004
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发表时间：
2016-01-01
影响因子：
3
通讯作者：
Coppola, Giangennaro
中科院分区：
文献类型：
--
作者：
Guacci, Anna;Chetta, Massimiliano;Coppola, Giangennaro
1例有大田原综合征临床病史且对苯妥英有严重不良反应的患者的STXBP1基因新突变，与CYP2C9基因复合杂合突变并存。
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.