ASSESSMENT OF SEIZURES AND DEVELOPMENTAL DISABILITY

Support information on page: Developmental Disorders > Metabolic & Genetic Disorders > Diagnostic testing

Blood

  • Complete blood cell count, electrolytes, calcium, magnesium
  • Glucose
  • Ammonia, uric acid
  • Biotinidase
  • Liver function tests, ammonia
  • Lactic acid, pyruvic acid
  • Acylcarnitines, amino acids

Urine

  • Organic acids, mucopolysaccharides
  • Sialic acid, oligosaccharides
  • Purines and pyrimidines

Cerebrospinal fluid

  • Glucose, protein, cells
  • Catecholamines

Neurophysiology

  • Electroencephalography (EEG)
  • Evoked potentials
  • Electromyography
  • Sensory and motor nerve conduction

Neuroradiology

  • Brain magnetic resonance imaging (MRI)

Tissue biopsies

  • Skin
  • Muscle
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