Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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...
Seizures: Classification01:13

Seizures: Classification

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:
Seizures l: Introduction01:20

Seizures l: Introduction

Understanding seizures and epilepsy relies on key definitions that help in recognizing, classifying, and managing these disorders. These definitions provide a framework for recognizing, classifying, and managing seizure disorders.DefinitionsA seizure is a sudden, abnormal burst of electrical activity in the brain that can cause changes in awareness, movement, sensation, or behavior, depending on the area involved. Epilepsy is a chronic condition characterized by recurrent, unprovoked seizures,...
Seizures ll: Types01:19

Seizures ll: Types

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...
Epilepsy ll: Types01:22

Epilepsy ll: Types

Recurrent seizures, stemming from abnormal electrical activity in the brain, are the defining characteristic of epilepsy, a chronic neurological condition. Because seizure features vary greatly, epilepsy is classified using two systems: by seizure type and by epilepsy syndromes. These classifications enable clinicians to describe seizure patterns and select suitable treatment strategies.I. Classification by Seizure Type1. Focal EpilepsyFocal epilepsy begins in one hemisphere of the brain.

You might also read

Related Articles

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

Sort by
Same author

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.

Clinical genetics·2017
Same author

Utility of EEG Activation Procedures in Epilepsy: A Population-Based Study.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society·2017
Same author

Can the predictive value of epileptiform electroencephalography abnormalities be assessed by a meta-analysis?

European journal of neurology·2015
Same author

A locus on mouse Ch10 influences susceptibility to limbic seizure severity: fine mapping and in silico candidate gene analysis.

Genes, brain, and behavior·2013
Same author

Is there a one-way street from essential tremor to Parkinson's disease? Possible biological ramifications.

European journal of neurology·2013
Same author

Epilepsy and education.

Epilepsia·2012

Related Experiment Video

Updated: Jul 26, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

R Ottman1, M R Winawer, S Kalachikov

  • 1Gertrude H. Sergievsky Center, Columbia University, New York, NY 10032, USA. ro6@columbia.edu

Neurology
|April 14, 2004
PubMed
Summary

Mutations in LGI1 are a common cause of autosomal dominant partial epilepsy with auditory features (ADPEAF). While clinical features are similar, families with LGI1 mutations show more auditory and fewer autonomic symptoms.

More Related Videos

Frontal Disconnection for Treating Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) in the Frontal Lobe
06:04

Frontal Disconnection for Treating Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) in the Frontal Lobe

Published on: August 16, 2024

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Related Experiment Videos

Last Updated: Jul 26, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

Frontal Disconnection for Treating Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) in the Frontal Lobe
06:04

Frontal Disconnection for Treating Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) in the Frontal Lobe

Published on: August 16, 2024

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Area of Science:

  • Genetics
  • Neurology
  • Epilepsy Research

Background:

  • Mutations in LGI1 are known to cause autosomal dominant partial epilepsy with auditory features (ADPEAF).
  • ADPEAF is a familial temporal lobe epilepsy characterized by auditory ictal manifestations.

Purpose of the Study:

  • Determine the proportion of ADPEAF families with LGI1 mutations.
  • Estimate the penetrance of identified LGI1 mutations.
  • Identify clinical features differentiating families with and without LGI1 mutations.

Main Methods:

  • Sequenced LGI1 in 10 new ADPEAF families.
  • Analyzed clinical features in newly identified and previously reported families with LGI1 mutations.

Main Results:

  • Identified missense mutations in LGI1 (C42R, I298T, A110D) in three families.
  • Observed 54% penetrance in eight families with LGI1 mutations.
  • Found mutations in 50% of tested families (excluding the original linkage family).
  • Families with mutations had more auditory and fewer autonomic symptoms compared to those without.
  • Simple, unformed sounds were the most common auditory symptom in mutation-positive families.
  • Two families with LGI1 mutations included individuals with idiopathic generalized epilepsies.

Conclusions:

  • LGI1 mutations are a frequent cause of ADPEAF.
  • No clear clinical predictor distinguishes families with LGI1 mutations.
  • LGI1 mutations may be associated with idiopathic generalized epilepsies, possibly due to direct effects or co-occurring genes.