Epileptic Encephalopathy of Unindentified Genetic Origin Clinical Trial
Official title:
Evaluation of the Diagnostic Contribution of High-throughput Exome Sequencing for Patients With Convulsive Encephalopathy of Unknown Etiology: Pilot Study to Improve Genetic Counselling
Congenital epileptic encephalopathies (EE) are predominantly genetic in origin. Their
diagnosis is hampered by the large number of genes involved and their low recurrence. Genetic
study in routine diagnosis is limited by the existing techniques and the development costs.
The routine diagnostic implementation of high throughput sequencing pushes these limits. High
throughput exome sequencing (ES) showed superior diagnostic performance in all diagnostic
settings studied.
This pilot study is dedicated to evaluating the diagnostic performance of high throughput ES
in EE, with an implementation and analysis strategy allowing for a direct transfer to routine
diagnostics. This novel approach should improve the diagnostic rate while reducing the
diagnostic cost per patient.
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