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Mitochondrial Dysfunction in Monogenic Developmental and Epileptic Encephalopathies.

Crista A Minderhoud1, Eva H Brilstra2, Floor E Jansen1

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Summary
This summary is machine-generated.

Mitochondrial dysfunction is common in developmental and epileptic encephalopathies (DEEs), even without a genetic mitochondrial disorder diagnosis. Whole exome sequencing can identify genetic causes for DEEs, potentially guiding targeted therapies.

Keywords:
DEEDevelopmental and epileptic encephalopathiesGenetic epilepsyMitochondrial diseaseMitochondrial dysfunctionMuscle functional assaySeizures

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Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Developmental and epileptic encephalopathies (DEEs) often mimic mitochondrial disorders (MDs) due to similar symptoms.
  • Accurate diagnosis is crucial as DEEs may be misdiagnosed as MDs before genetic testing.

Purpose of the Study:

  • To investigate mitochondrial dysfunction in patients with epilepsy and suspected mitochondrial disorders.
  • To compare mitochondrial function in genetically confirmed DEEs versus confirmed MDs.

Main Methods:

  • Retrospective analysis of 27 patients with suspected MD and epilepsy undergoing muscle/fibroblast biopsy (2005-2015).
  • Patients categorized into DEEs, confirmed MDs, suspected MDs, and non-MD metabolic diseases.
  • Mitochondrial Disease Criteria scores and statistical analyses were applied.

Main Results:

  • Mitochondrial dysfunction was prevalent across all groups, with 85% meeting probable/definite MD criteria.
  • Elevated plasma lactate and impaired ATP production were common.
  • Unexpectedly, severe mitochondrial complex dysfunction occurred in DEEs and other non-MD groups, but not in confirmed MDs.

Conclusions:

  • Mitochondrial dysfunction is frequent in non-mitochondrial DEEs.
  • Whole exome sequencing is recommended for patients with suspected MDs based on muscle biopsy to identify treatable genetic variants.
  • Future research should focus on tailoring treatments for non-MD DEEs based on mitochondrial function.