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A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

机译：具有TRPM3基因突变的发育和癫痫脑病（DEE）的中国患者：儿科病例报告

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摘要

Facial appearance at 7 years and 2 months old. Several facial anomalies, such as broad forehead, short philtrum, micrognathia and prominent lobule of the ear, were observed. We obtained permission from the parents to post this photograph

机译：7岁和2个月的面部外观。观察了几个面部异常，如广泛的额头，短腓，微明和耳朵着突出的耳朵。我们获得了父母的许可来发布这张照片

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期刊名称 BMC Pediatrics
作者
Qingyun Kang; Liming Yang; Hongmei Liao; Sai Yang; Xiaojun Kuang; Zeshu Ning; Caishi Liao; Bo Chen;
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作者单位

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年(卷),期 2021(-1),-1
年度 2021
页码 -1
总页数 5
原文格式 PDF
正文语种
中图分类儿科学;
关键词
TRPM3; DEE; Seizure; Video-EEG; Case report;

机译：TRPM3;DEE;癫痫发作;视频EEG;案例报告;

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专利

1. A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report [J] . Kang Qingyun, Yang Liming, Liao Hongmei, BMC Pediatrics . 2021,第1期

机译：具有患有TRPM3基因突变的发育和癫痫脑病（DEE）的中国患者：儿科案例报告
2. Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation [J] . Betül Uysal, Heidi L?ffler, Filip Rosa, Stem cell research . 2019,第2期

机译：从患有携带KCNA2的发育和癫痫脑病的患者的患者产生诱导的多能干细胞（IPSC）线（HIHDNEI003-A）（P.Thr374aala）突变
3. Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation - ScienceDirect [J] . Niklas Schwarz, Betül Uysal, Filip Rosa, Stem cell research . 2018,第2期

机译：从患有KCNA2（p.Leu328Val）突变的患有发展性和癫痫性脑病的患者中产生诱导性多能干细胞（iPSC）系-ScienceDirect
4. Patient-specific epileptic seizure detection in long-term EEG recording in paediatric patients with intractable seizures [C] . Morteza Zabihi, Serkan Kiranyaz, Turker Ince, IET Intelligent Signal Processing Conference . 2014

机译：患者特异性癫痫癫痫发作检测在儿科患者中难以致密的癫痫发作
5. Evaluation of a Precision Medicine Approach for hnRNP U-Related Developmental Epileptic Encephalopathy Using a Mouse Model of Disease [D] . Dugger, Sarah Anne. 2020

机译：使用小鼠疾病模型评估HNRNP U相关发育癫痫患者的精确药物方法
6. Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report [O] . Sai Yang, Xiang Shen, Qingyun Kang, 2020

机译：携带PPP3CA空变量的婴儿发病癫痫脑病的中国患者的临床和遗传研究：案例报告
7. Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene [O] . Maryam Alowaysi, Veronica Astro, Elisabetta Fiacco, 2021

机译：来自沙特患者的IPSC线路（Kausti011-A，Kausti011-B），癫痫患者在GLP1R基因中携带纯合突变

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

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