相关实验视频

Updated: Sep 13, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K

在患者的大脑症患者中PTEN的异构基因突变:病例报告

Lan Wang1, Yilin Su1, Mingshu Mo1

  • 1Department of Neurology, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Case reports in medicine
|August 4, 2025
PubMed
概括

酸酶和张素同源 (PTEN) 突变与神经问题有关. 一个案例研究发现了一种与大脑症和相关的新型PTEN突变,这表明了潜在的危险因素.

关键词:
在这里,我们可以看到PTEN.是一种.它们是异构的,具有异构性.宏观头脑症是什么意思误解突变是一种错误的突变.

更多相关视频

Author Spotlight: Studying Clinical Characters and Epilepsy Outcomes After Frontal Disconnection in Patients with MOGHE06:04

Author Spotlight: Studying Clinical Characters and Epilepsy Outcomes After Frontal Disconnection in Patients with MOGHE

Published on: August 16, 2024

1.0K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

500

相关概念视频

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...
280