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Updated: Jun 29, 2025

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GABRA4中De novo变体与神经现象型相关,包括发育迟缓,行为异常和

Samin A Sajan1, Ralph Gradisch2,3, Florian D Vogel4

  • 1Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.

European journal of human genetics : EJHG
|April 2, 2024
PubMed
概括

新的GABRA4基因变异与神经系统疾病有关,包括发育迟缓,和自闭症特征. 这些发现加强了GABRA4与神经发育和性异常的一系列疾病之间的联系.

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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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