相关实验视频

Updated: Feb 22, 2026

Author Spotlight: Insights into the Techniques and Findings of Recent Advancements in Epilepsy Research
04:41

Author Spotlight: Insights into the Techniques and Findings of Recent Advancements in Epilepsy Research

Published on: October 13, 2023

2.3K

在成年人中扩大与CACNA1A相关的发育性和性脑病变的表型谱

Orazio Palumbo1, Umberto Costantino2, Mario Benvenuto1

  • 1UOC Genetica Medica, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

Epileptic disorders : international epilepsy journal with videotape
|February 20, 2026
PubMed
概括

有害的CACNA1A基因变异会导致神经系统疾病,如发育性和性脑病变 (DEE). 这项研究揭示了成人表现的显著变化,即使在家庭内,强调需要精确的诊断和个性化护理.

关键词:
这就是CACNA1AA.发育性和性脑病变.是一种.病因学:是一种遗传性疾病.定位:不适用: 不适用这是下一代测序.现象学:缺席发作综合症:不适用:不适用视频电脑电脑电图 (EEG) 是一个视频电脑电图.

更多相关视频

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

1.6K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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

9.2K

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...
1.4K
Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

Antiepileptic Drugs: GABAergic Pathway Potentiators

γ-aminobutyric acid or GABA, plays a pivotal role as an inhibitory neurotransmitter in the brain. GABA pathway potentiators, also known as GABAergic drugs, are a class of pharmaceutical agents designed to enhance the functioning of the GABAergic system. These medications primarily treat epilepsy, a neurological disorder characterized by recurrent seizures.
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for...
1.5K