Related Experiment Video

Updated: Jun 20, 2026

Microdialysis of Excitatory Amino Acids During EEG Recordings in Freely Moving Rats
08:47

Microdialysis of Excitatory Amino Acids During EEG Recordings in Freely Moving Rats

Published on: November 8, 2018

Pyridoxine-dependent seizures: 10-year follow-up of eight cases

Roshan Koul1

  • 1Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Muscat, Oman. roshankoul@hotmail.com

Neurology India
|September 23, 2009
PubMed

Insights

Pyridoxine-dependent seizures (PDS) are rare but crucial to consider in infants with refractory seizures. Oral or intravenous pyridoxine effectively treats this condition, even in severe neonatal cases.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Pyridoxine-dependent seizures (PDS) are an inherited metabolic disorder.
  • PDS often presents as severe, refractory epilepsy in neonates.
  • Early diagnosis and treatment are critical for neurodevelopmental outcomes.

Purpose of the Study:

  • To report on a cohort of children diagnosed with PDS.
  • To emphasize the importance of considering PDS in refractory seizures.
  • To compare the efficacy of oral versus intravenous pyridoxine administration.

Main Methods:

  • Retrospective case series of eight children with PDS over 10 years.
  • Clinical presentation and treatment response were analyzed.
  • Diagnostic confirmation and follow-up data were reviewed.

Main Results:

  • Eight children with PDS were identified over a decade, with six in regular follow-up.
  • Four affected children belonged to the same family.
  • All patients exhibited refractory seizures, predominantly neonatal status epilepticus.
  • Oral pyridoxine demonstrated comparable efficacy to intravenous administration for diagnosis confirmation.

Conclusions:

  • PDS should be considered in the differential diagnosis of all refractory seizures, especially in infants under three years.
  • Pyridoxine administration, whether oral or intravenous, is an effective treatment for PDS.
  • Prompt recognition and treatment of PDS can prevent severe neurological sequelae.

More Related Videos

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy09:57

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

Published on: September 20, 2024

Related Concept Videos

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:
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 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...
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,...
Antiepileptic Drugs: Potassium Channel Activators01:20

Antiepileptic Drugs: Potassium Channel Activators

Ezocgabine or retigabine, an antiepileptic drug of remarkable efficacy, has revolutionized the management of seizures. It is a potassium channel activator, explicitly targeting the family of Q subtype potassium channels. It enhances the transmembrane potassium currents, regulating neuronal excitability. This action stabilizes the resting membrane potential, a pivotal factor in mitigating the hyperexcitability that characterizes epilepsy.
Ezogabine has gained approval as an adjunctive treatment...
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein01:20

Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein

Antiepileptic drugs, such as levetiracetam (Keppra) and brivaracetam (Briviact), have emerged as crucial tools in managing epilepsy. These medications exert their therapeutic effects by targeting the synaptic vesicle protein SV2A, a transmembrane glycoprotein primarily found in the brain.
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...