Abstract

Researchers at Autonomous University of Madrid, and other centers in Spain studied the clinical, biochemical, and genetic spectrum of pyridoxine-dependent epilepsy (PDE) in 12 patients with the clinically proven diagnosis.

Highlights

  • pyridoxine-dependent epilepsy (PDE) should be considered in any infant with intractable seizures, including patients with MRI abnormalities such as corpus callosum dysgenesis or Dandy Walker syndrome

  • Researchers at King’s College, London; Kyushu University, Japan; and Barcelona, Spain conducted a meta-analysis of functional magnetic resonance imaging in ADHD during inhibition and attention tasks, with reference to age and effects of long-term use of stimulant medication

  • Patients with ADHD have cognitive dysfunctions in right fronto-basal ganglia-thalamic networks, and long-term stimulant medication is associated with normalization of right caudate deficits during attention

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Summary

Introduction

CLINICAL, BIOCHEMICAL, AND MOLECULAR STUDIES AND TREATMENT OF PYRIDOXINE-DEPENDENT EPILEPSY Researchers at Autonomous University of Madrid, and other centers in Spain studied the clinical, biochemical, and genetic spectrum of pyridoxine-dependent epilepsy (PDE) in 12 patients with the clinically proven diagnosis. The effective dose of pyridoxine to suppress seizures ranged from 10 to 30 mg/kg/day.

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