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Updated: Jan 13, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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针对性基因小组测试在儿科:诊断结果和扩大遗传见解

Aslihan Sanri1, Unal Akca2, Mehmet Burak Mutlu3

  • 1Department of Pediatric Genetics, Samsun Training and Research Hospital, Samsun, Türkiye.

Brain & development
|January 10, 2026
PubMed
概括

基因组测试诊断了15.7%的儿科病例,识别了新的突变和常见的基因变异,如KCNQ2和SCN1A. 这突出了基因测试的重要意义.

关键词:
是一种病.性脑病变 (Epileptic Encephalopathy) 是一种发生在脑中的疾病.遗传学 遗传学 是一个这是下一代测序.儿科 儿科 儿科

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Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
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