Talvik Inga, Møller Rikke S, Vaher Merilin, Vaher Ulvi, Larsen Line Hg, Dahl Hans A, Ilves Pilvi, Talvik Tiina
Department of Pediatrics, University of Tartu, Tartu, Estonia.
Child Neurology Unit of Children's Clinic of Tartu University Hospital, Tartu, Estonia.
Child Neurol Open. 2015 May 5;2(2):2329048X15583717. doi: 10.1177/2329048X15583717. eCollection 2015 Apr-Jun.
Mutations in the guanine nucleotide-binding protein (G protein), α activating activity polypeptide O () gene have recently been described in 6 patients with early infantile epileptic encephalopathies. In the present study, we report the phenotype and the clinical course of a 4-year-old female with an epileptic encephalopathy (Ohtahara syndrome) and profound intellectual disability due to a de novo mutation (c.692A>G; p.Tyr231Cys). Ohtahara syndrome is a devastating early infantile epileptic encephalopathy that can be caused by mutations in different genes, now also including . The mutation was found using a targeted next generation sequencing gene panel and demonstrates targeted sequencing as a powerful tool for identifying mutations in genes where only a few de novo mutations have been identified.
最近在6例早发性婴儿癫痫性脑病患者中发现了鸟嘌呤核苷酸结合蛋白（G蛋白）α激活活性多肽O（）基因突变。在本研究中，我们报告了一名4岁女性癫痫性脑病（大田原综合征）患者的表型和临床病程，该患者因新发突变（c.692A>G；p.Tyr231Cys）导致严重智力残疾。大田原综合征是一种严重的早发性婴儿癫痫性脑病，可由不同基因的突变引起，现在也包括。该突变是通过靶向新一代测序基因panel发现的，证明了靶向测序是识别仅发现少数新发突变的基因中突变的有力工具。
