Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Epilepsy and Seizures: Overview

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...

Cerebral Hemispheres

Cerebral Hemispheres

The human brain, a complex organ, is functionally divided into two cerebral hemispheres—left and right. These hemispheres are interconnected by a structure of paramount importance, the corpus callosum. This substantial bundle of neural fibers is not just a bridge between the hemispheres but a crucial element for the brain's comprehensive functioning. It enables efficient communication between the two hemispheres, allowing each side of the brain to control and receive sensory and motor...

Probability Laws

Probability Laws

Punnett Squares

Punnett Squares

Pedigree Analysis

Pedigree Analysis

What is a Sensory System?

What is a Sensory System?

Sensory systems detect stimuli—such as light and sound waves—and transduce them into neural signals that can be interpreted by the nervous system. In addition to external stimuli detected by the senses, some sensory systems detect internal stimuli—such as the proprioceptors in muscles and tendons that send feedback about limb position.

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Soluble uric acid suppresses neutrophil-mediated host defense in sepsis.

Nature communications·2026

Same author

Folic acid supplementation and prevention of adverse offspring outcomes among women with epilepsy: An observational study.

Epilepsia·2026

Same author

Phenotypic heterogeneity within twins with MELAS with epilepsy: Case report.

Medicine·2026

Same author

Platelet Cyclophilin D Drives Cholesterol Crystal Embolism-Related Acute Kidney Injury and Kidney Infarction.

Journal of the American Society of Nephrology : JASN·2026

Same author

Echinacoside improves antioxidant responses and angiogenesis through Parkin-MFN2-mediated mitophagy to promote diabetic wound healing.

Free radical biology & medicine·2026

Same author

Bidirectional deep learning for chromatic-optical predicting and inverse design of LED systems with multi-objective optimization of circadian efficacy and gamut.

Optics express·2025

Search research articles

Related Experiment Video

Updated: Feb 15, 2026

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

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

Published on: August 16, 2024

Child with cerebral malformations and epilepsy.

Ying Sun¹, Xuehua Shen¹, Qiubo Li²

¹a Department of Neurology , Affiliated Hospital of Jining Medical University , Jining City , Shandong Province , China.

The International Journal of Neuroscience

|January 27, 2018

Summary

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare genetic disorder. Genetic screening identified a novel ACTB gene mutation in a patient with characteristic facial features and refractory epilepsy.

Keywords:

ACTB mutation Baraitser-Winter cerebrofrontofacial syndrome cerebral malformations epilepsy

More Related Videos

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Published on: September 4, 2017

Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations

Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations

Published on: October 20, 2017

Related Experiment Videos

Last Updated: Feb 15, 2026

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

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

Published on: August 16, 2024

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Published on: September 4, 2017

Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations

Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations

Published on: October 20, 2017

Area of Science:

Genetics
Neurology
Pediatrics

Background:

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare, autosomal dominant genetic disorder.
It is characterized by multiple organ system involvement, notably structural brain abnormalities and distinct facial features.

Observation:

A pediatric patient presented with ptosis, ocular hypertelorism, hearing impairment, hypotonia, and gait instability.
The patient experienced psychomotor development delay and seizures refractory to antiepileptic drugs.

Findings:

Genetic screening revealed a de novo mutation in the ACTB gene (c.484A>G, p.Thr162Ala).
No related mutations were found in the parents, confirming a de novo occurrence.

Implications:

Suspected BWCFF in patients with typical facial features, cerebral cortical malformations, and refractory epilepsy.
Genetic screening is crucial for confirming BWCFF diagnosis and understanding its genetic basis.