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...

You might also read

Related Articles

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

Sort by

Same author

Clinical phenotype and long-term damage in paediatric Behçet's disease: comparative performance of ISG, ICBD and PEDBD classification criteria in a retrospective endemic cohort.

RMD open·2026

Same author

Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.

Brain & development·2026

Same author

Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.

Pediatric diabetes·2025

Same author

Pediatric vertigo: Age-Specific profiles and modifiable biomarkers in a case-control study.

International journal of pediatric otorhinolaryngology·2025

Same author

Seizure freedom in pediatric juvenile myoclonic epilepsy: The roles of cognition, chronodependency, and EEG.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2025

Same author

Outcomes in West syndrome: Association of genetic and perinatal etiologies with early diagnosis and therapy.

Pediatrics international : official journal of the Japan Pediatric Society·2025

Search research articles

Related Experiment Video

Updated: May 2, 2026

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis

Published on: November 21, 2013

Hyperekplexia: A Single-Center Experience.

Merve Hilal Dolu¹, Gökçen Öz Tunçer¹, Ünal Akça¹

¹Department of Pediatric Neurology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.

Journal of Child Neurology

|July 25, 2024

Summary

This summary is machine-generated.

Hyperekplexia, a rare neurogenetic disorder, presents with exaggerated startle responses. Genetic testing is crucial as it can lead to misdiagnosis and complications like intellectual disability.

Keywords:

antiepileptic drugs epilepsy genetics neurodevelopment

More Related Videos

$Stereo-Electro-Encephalo-Graphy SEEG With Robotic Assistance in the Presurgical Evaluation of Medical Refractory Epilepsy: A Technical Note$

Stereo-Electro-Encephalo-Graphy SEEG With Robotic Assistance in the Presurgical Evaluation of Medical Refractory Epilepsy: A Technical Note

Published on: June 13, 2016

Simultaneous Eye Tracking and Single-Neuron Recordings in Human Epilepsy Patients

Simultaneous Eye Tracking and Single-Neuron Recordings in Human Epilepsy Patients

Published on: June 17, 2019

Related Experiment Videos

Last Updated: May 2, 2026

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis

Published on: November 21, 2013

$Stereo-Electro-Encephalo-Graphy SEEG With Robotic Assistance in the Presurgical Evaluation of Medical Refractory Epilepsy: A Technical Note$

Stereo-Electro-Encephalo-Graphy SEEG With Robotic Assistance in the Presurgical Evaluation of Medical Refractory Epilepsy: A Technical Note

Published on: June 13, 2016

Simultaneous Eye Tracking and Single-Neuron Recordings in Human Epilepsy Patients

Simultaneous Eye Tracking and Single-Neuron Recordings in Human Epilepsy Patients

Published on: June 17, 2019

Area of Science:

Neurogenetics
Pediatric Neurology

Background:

Hyperekplexia is a rare neurogenetic disorder characterized by an exaggerated startle response.
Neonatal excessive startle and muscle stiffness are key features of the major form.

Purpose of the Study:

To determine the clinical and genetic characteristics of hyperekplexia patients.
To highlight the importance of genetic evaluation and neuropsychiatric assessment.

Main Methods:

Retrospective review of patient data including history, clinical course, and diagnostic tests.
Analysis of gene mutations, neurodevelopmental assessments, and inheritance patterns.

Main Results:

Sixteen patients had identified mutations in hyperekplexia-associated genes (GLRA1, SLC6A5).
A significant percentage were misdiagnosed with epilepsy (56.25%) or had intellectual disability (43.75%).
Autosomal recessive inheritance was most common (93.75%).

Conclusions:

Hyperekplexia can lead to significant developmental delays and intellectual disability, challenging its perception as benign.
Early diagnosis through genetic testing is vital for appropriate management and to prevent complications.
Comprehensive evaluation including neuropsychiatric status is recommended for all diagnosed patients.