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Related Concept Videos

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.
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,...

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Related Experiment Video

Updated: May 12, 2026

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy
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Partial epilepsy and developmental delay in infant with ring chromosome 14.

G Imataka1, M Noguchi, K Tsukada

  • 1Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi, Japan. geo@dokkyomed.ac.jp

Genetic Counseling (Geneva, Switzerland)
|April 25, 2013
PubMed
Summary

Ring chromosome 14 (r14) causes early-onset epilepsy and developmental delays. Chromosomal analysis is crucial for diagnosing r14 in infants with unexplained seizures and developmental issues.

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Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy
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Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy
10:22

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Published on: December 6, 2016

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Ring chromosome 14 (r14) syndrome is a rare chromosomal disorder.
  • It is associated with a distinct set of clinical features including early-onset epilepsy and developmental abnormalities.

Observation:

  • A case of a female infant presenting with partial seizures and delayed development is described.
  • The patient experienced afebrile generalized convulsions at 9 months, later evolving into complex partial seizures.

Findings:

  • Karyotyping revealed the diagnosis of 46, XX, r(14) (p11.2q32.3).
  • Despite the absence of consistent neuroimaging or EEG findings, clinical presentation and facial dysmorphisms aided diagnosis.
  • Epilepsy in this patient was refractory to initial treatment, requiring adjustments in medication.

Implications:

  • The study highlights the importance of chromosomal analysis in infants with unexplained refractory epilepsy and developmental delay.
  • Early diagnosis of ring chromosome 14 syndrome can facilitate timely management and genetic counseling.
  • Pediatric neurologists should consider chromosomal abnormalities when faced with complex neurological presentations in infancy.