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Epilepsy and Seizures: Overview

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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.
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Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy

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Intractable seizures, developmental delay, and the ketogenic diet.

Mandy Lyn O Harris¹, Hema Patel, Bhuwan P Garg

¹Department of Neurology, Division of Pediatric Neurology, Indiana University School of Medicine, Indianapolis, IN 46202, USA. mortgies@iupui.edu

Seminars in Pediatric Neurology

|December 17, 2008

Summary

Glucose transporter type 1 (GLUT1) deficiency syndrome is a rare condition causing developmental delay and seizures in infants. Early diagnosis via cerebrospinal fluid glucose levels and prompt ketogenic diet treatment are crucial for managing symptoms.

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Area of Science:

Neurology
Metabolic Disorders
Pediatrics

Background:

Glucose transporter type 1 (GLUT1) deficiency syndrome is a rare condition.
It presents as a treatable cause of developmental delay and seizures in infants.
GLUT1 deficiency should be considered in the differential diagnosis of infant intractable seizures.

Observation:

Low cerebrospinal fluid glucose with normal blood glucose levels, in the absence of other abnormalities, indicates GLUT1 deficiency.
Genetic analysis can confirm the diagnosis.
Antiepileptic drugs are often ineffective for seizure control.

Findings:

The ketogenic diet is the preferred treatment for managing seizures associated with GLUT1 deficiency.
Early identification and prompt treatment are essential.

Implications:

Early intervention can prevent or reduce the severity of developmental delays.
Accurate diagnosis and appropriate management significantly improve patient prognosis.
Highlights the importance of considering rare metabolic disorders in pediatric neurology.