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Updated: May 7, 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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NEXMIF与KIDINS220结合,导致神经发育障碍和的基因突变:一个病例报告

Hongli Qi1, Dongju Pan1, Ying Zhang1

  • 1Department of Pediatrics, Pu'er People's Hospital, 665000 Pu'er, Yunnan, China.

Actas espanolas de psiquiatria
|August 12, 2024
PubMed
概括

基因检测发现了神经元扩展和迁移因子 (NEXMIF) 基因在发育迟缓和发作的婴儿中的突变. 早期遗传查对于诊断儿童神经发育障碍至关重要.

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Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

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...