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When the face says it all: dysmorphology in identifying syndromic causes of epilepsy
  1. Abhijit Dixit,
  2. Mohnish Suri
  1. Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK
  1. Correspondence to Dr Mohnish Suri, Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, City Hospital Campus, Hucknall Road, Nottingham NG5 1PB, UK; mohnish.suri{at}nuh.nhs.uk

Abstract

Identifying the underlying cause of epilepsy often helps in choosing the appropriate management, suggests the long-term prognosis and clarifies the risk of the same condition in relatives. Epilepsy has many causes and a small but significant proportion of affected people have an identifiable genetic cause. Here, we discuss the role of genetic testing in adults with epilepsy, focusing on dysmorphic features noticeable on physical examination that might provide a strong clue to a specific genetic syndrome. We give illustrative examples of recognisable facial ‘gestalt’. An astute clinician can recognise such clues and significantly shorten the process of making the underlying diagnosis in their patient.

  • EPILEPSY
  • Syndromes
  • Dysmorphic features
  • Diagnosis

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