Plasma amino acids in childhood epileptic encephalopathies

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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

C D Ferrie1, S Bird, K Tilling

  • 1Department of Paediatric Neurology, Leeds General Infirmary, Belmont Grove, UK.

Epilepsy Research
|April 21, 1999
PubMed

Insights

Children with epileptic encephalopathies and their parents show lower aspartate levels, suggesting a potential genetic link in neurotransmitter systems. This finding is particularly noted in cases without focal brain abnormalities on PET scans.

Area of Science:

  • Neuroscience
  • Biochemistry
  • Genetics

Background:

  • Plasma amino acid abnormalities are observed in epilepsy patients and their relatives.
  • Epileptic encephalopathies in children present complex challenges in understanding pathogenesis.
  • Cortical glucose metabolism provides insights into brain function in neurological disorders.

Purpose of the Study:

  • To investigate plasma amino acid levels in children with epileptic encephalopathies and their parents.
  • To correlate these amino acid levels with cortical glucose metabolism patterns assessed by 18-fluorodeoxyglucose positron emission tomography (FDG PET).
  • To explore potential genetic links in neurotransmitter systems contributing to childhood epileptic encephalopathies.

Main Methods:

  • Prospective study of 28 children with cryptogenic epileptic encephalopathies and their parents.
  • FDG PET scans with visual and semiquantitative analysis to identify focal cortical defects.
  • Ion exchange chromatography to measure plasma concentrations of 21 amino acids.
  • Non-parametric statistical methods and multivariate analysis for data comparison and antiepileptic drug effects.

Main Results:

  • Significantly lower plasma aspartate levels were found in children with epileptic encephalopathies and their parents (P < 0.005).
  • Lowered aspartate levels were not attributable to antiepileptic drug (AED) treatment.
  • Reduced aspartate was specifically observed in children and parents without focal abnormalities on PET scans.

Conclusions:

  • Findings suggest a possible genetic abnormality in aspartate neurotransmitter systems in the pathogenesis of childhood epileptic encephalopathies.
  • Lowered aspartate may be a biomarker for specific subgroups of epileptic encephalopathies, particularly those without focal PET defects.
  • Further research into neurotransmitter system genetics is warranted for understanding and treating these conditions.

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