Article Text
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
Statistics from Altmetric.com
Request Permissions
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Copyright information:
Linked Articles
- Editors' commentary
Read the full text or download the PDF:
Other content recommended for you
- Contribution of spurious transcription to intellectual disability disorders
- From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease
- 2018 Southern Regional Meeting
- Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin - Lowry syndrome
- Rapid Paediatric Sequencing (RaPS): comprehensive real - life workflow for rapid diagnosis of critically ill children
- Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome
- Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
- Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review
- Coffin - Lowry phenotype in a patient with a complex chromosome rearrangement
- Telomeres: a diagnosis at the end of the chromosomes