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Updated: Jan 12, 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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与NPRL2/NPRL3基因相关的的基因型和表型分析

Song Su1, Hongwei Zhang2, Qi Zhang1

  • 1Neurology Department, Children's Hospital Affiliated to Shandong University, Jinan, Shandong, China; Neurology Department, Jinan Children's Hospital, Jinan, Shandong, China.

Seizure
|November 6, 2025
PubMed
概括

与NPRL2/NPRL3基因变异相关的经常涉及焦点发作和耐药性,经常伴有皮层发育形 (MCD). 早期发病和MCD在NPRL2相关的中更为常见,而牛炭bazepine对这两种基因变体都显示出有效性.

关键词:
一个基因型的基因型.这是NPRL2的NPRL2.在NPRL3中,现象类型的 现象类型的

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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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