Department of Paediatric Neurology, School of Medicine in Katowice, Medical University of Silesia in Katowice, Katowice, Poland.
Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
Clin Genet. 2019 Sep;96(3):274-275. doi: 10.1111/cge.13592. Epub 2019 Jul 10.
A patient harboring a novel p.Gly112Ser variant in FGF12 gene had a positive response to phenytoin/phenobarbital treatment. All the 11 previously reported FGF12-associated epilepsy cases had a single neighboring p.(Arg114His) variant and presented similar phenotype.
一名携带有 FGF12 基因新型 p.Gly112Ser 变异的患者对苯妥英/苯巴比妥治疗有阳性反应。所有之前报道的 11 例 FGF12 相关癫痫病例均存在单一相邻的 p.(Arg114His)变异，并表现出相似的表型。
