Advances in genetic testing and optimization of clinical management in children and adults with epilepsy

ABSTRACT

Introduction: Epileptic disorders are a heterogeneous group of medical conditions with epilepsy as the common denominator. Genetic causes, electro-clinical features, and management significantly vary according to the specific condition.

Areas covered: Relevant diagnostic advances have been achieved thanks to the advent of Next Generation Sequencing (NGS)-based molecular techniques. These revolutionary tools allow to sequence all coding (whole exome sequencing, WES) and non-coding (whole genome sequencing, WGS) regions of human genome, with a potentially huge impact on patient care and scientific research.

Expert opinion: The application of these tests in children and adults with epilepsy has led to the identification of new causative genes, widening the knowledge on the pathophysiology of epilepsy and resulting in therapeutic implications. This review will explore the most recent advancements in genetic testing and provide up-to-date approaches for the choice of the correct test in patients with epilepsy.

KEYWORDS:

• Epilepsy
• genetic testing
• next Generation Sequencing
• whole Exome Sequencing
• therapy
• antiepileptic drugs
• surgery

Article highlights

• Epilepsy is the common denominator of a heterogeneous group of medical conditions (epileptic disorders) with different genetic causes, electro-clinical features, and management.

• Several genetic tests are currently available to investigate patients with epileptic conditions with presumed genetic basis.

• The choice of the most appropriate test in each patient plays a primary role to achieve a good diagnostic yield.

• The advent and improvement of Next Generation Sequencing (NGS)-based techniques have provided a significant advancement in the diagnosis of epileptic patients.

• NGS has made possible to sequence all the coding regions of human genome through whole exome sequencing (WES).

• Recent advances of NGS-based techniques have further allowed to sequence the non-coding regions of human genome through whole genome sequencing (WGS).

• The correct use of NGS-based tests has led to the identification of new causative and putative genes, allowing us to understand new pathophysiological mechanisms underlying epilepsy.

• The advancements achieved through the recent genetic techniques have significantly improved the possibilities of precision medicine and patient care.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose

Supplementary material

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Additional information

Funding

This paper was not funded.