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Updated: Jan 17, 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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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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在复杂的儿童综合征中基于全外测序的诊断 - - 临床实用性的队列研究

Alfiya Fasaludeen1, Manna Jose1, U Aswathi1

  • 1R Madhavan Nayar Centre for Comprehensive Epilepsy Care, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

Clinical genetics
|September 16, 2025
PubMed
概括

整体外体测序 (WES) 是有效的诊断儿童开始的耐药性 (DRE) 和发育性和性脑病变 (DEE). 在41.1%的病例中,Trio-WES发现了致病变体,有助于基因诊断和精准医学.

关键词:
迪伊·迪伊是什么意思药物耐药性 - 抗药性基因检测 基因检测是指基因检测.三元整体外基因组测序

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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...
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Seizures: Classification01:13

Seizures: Classification

Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
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