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Updated: Jun 8, 2025

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在波兰人口中,基于成年的全外体测序测试

Magdalena Mroczek1, Dominika Szczęśniak2,3, Karolina Ziora-Jakutowicz3,2

  • 1Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland. m.mroczek888@gmail.com.

Neurologia i neurochirurgia polska
|November 7, 2024
PubMed
概括

波兰成年患者的整体外基因组测序产生了17%的诊断率. 基因测试发现了和神经发育基因的变异,这表明在复杂病例中使用更广泛的基因组.

关键词:
波兰人口的波兰人口.是一种.遗传学 遗传学 遗传学 是一个整体外基因组测序的测序

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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.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
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