18q deletion syndrome

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

18q deletion syndrome. This manifests as autonomic seizures. It is associated with cardiac arrhythmias and apnoea. Fully referenced neurology checklist.

Epilepsy

  • This manifests as autonomic seizures
  • It is associated with cardiac arrhythmias and apnoea

Craniofacial dysmorphism

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Other clinical features

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Magnetic resonance imaging (MRI) brain: features

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Electroencephalogram (EEG): features

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Treatment

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References

  1. Sorge G, Sorge A. Epilepsy and chromosomal abnormalities. Ital J Pediatr 2010; 36:36. 
  2. Battaglia A, Guerrini R. Chromosomal disorders associated with epilepsy. Epileptic Disord 2005; 7:181-192. 
  3. Verrotti A, Carelli A, di Genova L, Striano P. Epilepsy and chromosome 18 abnormalities: a review. Seizure 2015; 32:78-83.

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