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Related Concept Videos

Parkinson Disease l: Introduction01:24

Parkinson Disease l: Introduction

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Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of...
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Dysrhythmias II: Classification of Tachyarrhythmias01:28

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Tachyarrhythmias are a type of dysrhythmia where the heart rate exceeds 100 beats per minute. Here are some common types of tachyarrhythmias:Sinus TachycardiaSinus tachycardia originates from increased impulses from the sinus node, leading to an elevated heart rate. It is often triggered by stress, fever, or exercise.Patients may experience palpitations, a sensation of a racing heart, dizziness, and chest discomfort.Causes and Risk Factors: Common causes include physical exertion, emotional...
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Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

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Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
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REM Sleep Behavior Disorder01:15

REM Sleep Behavior Disorder

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REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
RBD is significantly associated with...
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Dysrhythmias III: Characteristics of Dysrhythmias01:29

Dysrhythmias III: Characteristics of Dysrhythmias

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Dysrhythmias, also known as arrhythmias, are irregular heart rhythms that result from abnormal electrical activity in the heart, affecting its ability to circulate blood efficiently. Tachyarrhythmias, a subset of dysrhythmias, are characterized by abnormally fast heart rates exceeding 100 beats per minute. Here are some types of tachyarrhythmias with their distinct ECG features:Sinus Tachycardia:Sinus tachycardia presents a regular heart rhythm with an increased rate of 101-180 beats per...
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Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

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Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...
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Related Experiment Video

Updated: Apr 22, 2026

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia
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[PRRT2 gene-related paroxysmal disorders].

Jin Li1, Xiao Mao, Junling Wang

  • 1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R.China. bstang7398@163.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|October 10, 2014
PubMed
Summary

Proline-rich transmembrane protein 2 (PRRT2) gene mutations cause various neurological disorders like paroxysmal kinesigenic dyskinesias. We propose naming these PRRT2-related paroxysmal disorders (PRPDs) for better diagnosis and treatment.

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Context:

  • Proline-rich transmembrane protein 2 (PRRT2) is implicated in several neurological disorders.
  • Existing classifications for PRRT2-related conditions lack uniformity.
  • Understanding the genetic basis of these disorders is crucial for clinical management.

Purpose:

  • To propose a unified nomenclature for disorders caused by PRRT2 gene defects.
  • To review the clinical phenotypes, common features, and pathogenesis of these disorders.
  • To facilitate improved clinical diagnosis, treatment, and prognosis.

Summary:

  • PRRT2 mutations are the underlying cause of paroxysmal kinesigenic dyskinesias (PKD), benign familial infantile seizures (BFIS), and infantile convulsions with paroxysmal choreoathetosis (ICCA).
  • These distinct clinical entities share common characteristics suggesting a shared genetic etiology.
  • The proposed term PRRT2-related paroxysmal disorders (PRPDs) encompasses these conditions.

Impact:

  • Establishing a unified name (PRPDs) aids in clinical recognition and diagnosis.
  • This review consolidates knowledge on PRRT2-related disorders, aiding treatment strategies.
  • Understanding the pathogenesis of PRRT2 mutations offers insights into neuronal function and dysfunction.