Related Experiment Video
Updated: Apr 19, 2026

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
Menkes disease presenting with epilepsia partialis continua
Tamer Rizk1, Adel Mahmoud2, Tahani Jamali2
1Pediatric Neurology Department, Al-Takhassusi Hospital, HMG, P.O. Box 365814, Riyadh 11393, Saudi Arabia ; Pediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
Menkes disease, a rare neurodegenerative disorder, can present with unusual seizures like epilepsia partialis continua in infants. Early recognition and copper supplementation may help manage these challenging symptoms.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Menkes disease is a rare X-linked recessive neurodegenerative disorder.
- It results from mutations in the ATP7A gene, affecting copper transport.
- Typical symptoms include kinky hair, developmental regression, and seizures.
Purpose of the Study:
- To describe a female infant with Menkes disease presenting with epilepsia partialis continua.
- To highlight an atypical presentation of this rare genetic disorder.
Main Methods:
- Case report of a 17-month-old Saudi infant.
- Clinical presentation and diagnosis of epilepsia partialis continua.
Main Results:
- The patient presented with repetitive seizures, diagnosed as epilepsia partialis continua.
- Menkes disease was confirmed, an unusual presentation for the condition.
Conclusions:
- Awareness of atypical Menkes disease presentations is crucial.
- Subcutaneous copper supplementation may aid in seizure control for affected individuals.
More Related Videos
11:54Simultaneous Video-EEG-ECG Monitoring to Identify Neurocardiac Dysfunction in Mouse Models of Epilepsy
Published on: January 29, 2018
10:22Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy
Published on: December 6, 2016
Related Concept Videos
Epilepsy ll: Types
Seizures: Classification
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:
Epilepsy and Seizures: Overview
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Seizures l: Introduction
Seizures ll: Types
Antiepileptic Drugs: Potassium Channel Activators
Ezogabine has gained approval as an adjunctive treatment...