Jove
Visualize
Contáctanos
JoVE
x logofacebook logolinkedin logoyoutube logo
ACERCA DE JoVE
Visión GeneralLiderazgoBlogCentro de Ayuda JoVE
AUTORES
Proceso de PublicaciónConsejo EditorialAlcance y PolíticasRevisión por ParesPreguntas FrecuentesEnviar
BIBLIOTECARIOS
TestimoniosSuscripcionesAccesoRecursosConsejo Asesor de BibliotecasPreguntas Frecuentes
INVESTIGACIÓN
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchivo
EDUCACIÓN
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualCentro de Recursos para ProfesoresSitio de Profesores
Términos y Condiciones de Uso
Política de Privacidad
Políticas

Videos de Conceptos Relacionados

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

30.2K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
30.2K
Seizures: Classification01:13

Seizures: Classification

2.5K
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:
2.5K
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

790
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
790
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

110
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
110
Seizures ll: Types01:19

Seizures ll: Types

36
Seizures are sudden bursts of abnormal electrical discharge in the brain that interfere with normal function. They are commonly divided into three groups: focal seizures, generalized seizures, and other types that do not fit neatly into either category.Focal SeizuresFocal seizures begin in a single brain region. When awareness is preserved, they are called focal aware seizures and may cause sensations such as tingling, unusual smells, or flashing lights. When awareness is impaired, they are...
36
Alterations in Muscle Tone ll01:12

Alterations in Muscle Tone ll

27
Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...
27

También podría leer

Artículos Relacionados

Artículos vinculados a este trabajo por autores compartidos, revista y gráfico de citas.

Ordenar por
Same author

Genetic analysis of self-limiting familial infantile epilepsy caused by PRRT2 variants in Indian patients.

Seizure·2026
Same author

Progressive Supranuclear Palsy in India: Insights from a Large Multicenter Clinical Cohort (Project PAIR-PSP).

Movement disorders clinical practice·2026
Same author

Plant-derived neuroprotective compounds and nanoformulations targeting Parkinson's disease: a semi-systematic review of mechanisms and therapeutic potential.

Metabolic brain disease·2026
Same author

Association of Bassoon (BSN) Gene Mutations With Gait and Motor Impairments in Parkinson's Disease.

The European journal of neuroscience·2026
Same author

Practices, Resources and Challenges in Parkinson's Disease Management in Asia: Movement Disorders in Asia Study Group Report.

Movement disorders clinical practice·2025
Same author

Glycosylated fibronectin: a maternal serum biomarker for diagnosing gestational diabetes mellitus.

Anatomy & cell biology·2025

Video Experimental Relacionado

Updated: May 2, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K

Discinesia cinegénica paroxística relacionada con TMEM151A en las dos primeras familias indias

Revathi Sampath1, Prabhakara Somanna1, Anbazhagan Kolandaswamy2

  • 1Department of Biotechnology, Dr.M.G.R. Educational and Research Institute, Chennai, India; Department of Genetics, RajaRajeswari Medical College and Hospital, Bangalore, India.

Parkinsonism & related disorders
|August 29, 2025
PubMed
Resumen

Las variantes genéticas en TMEM151A están relacionadas con la discinesia paroxística cinegénica. Este estudio identificó una variante conocida de TMEM151A en una familia y una nueva variante en otra, mejorando nuestra comprensión de este trastorno neurológico.

Área de la Ciencia:

  • La genética
  • Neurología
  • Biología molecular

Sus antecedentes:

  • La discinesia paroxística cinegénica (PKD) es un trastorno neurológico del movimiento poco frecuente.
Palabras clave:
Enfermedad cardíacaEl PRRT2Trastornos del movimiento paroxísticoEn el caso de los vehículos con ruedas de seguridad:

Más Videos Relacionados

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
10:41

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia

Published on: September 12, 2020

7.5K
High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

4.5K

Videos de Experimentos Relacionados

Last Updated: May 2, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K
Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
10:41

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia

Published on: September 12, 2020

7.5K
High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

4.5K
  • Si bien las variantes de PRRT2 son causas establecidas de PKD, se están investigando otros factores genéticos.
  • TMEM151A ha sido implicado en la patogénesis de la PKD.