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Understanding Genetic Test Results in Childhood Epilepsies

  • Neurology (D Stephenson, Section Editor)
  • Published:
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Abstract

Purpose of Review

During the last 5 years, the number of genes identified as causes of childhood epilepsies has increased significantly. Within this review, the current state of knowledge, rationale for genetic testing, and emerging issues and controversies in the field will be discussed.

Recent Findings

Modern genomic technologies, commonly referred to as next-generation sequencing or massive parallel sequencing approaches, have enabled the discovery of more than 30 novel genes associated with childhood epilepsies, mainly in epileptic encephalopathies, which are characterized by developmental delay and severe and often intractable epilepsy. In patients with early-onset severe epilepsies, explanatory genetic findings can be identified in up to 30% of patients. The most common genes identified in patients include SCN1A, SCN2A, CDKL5, and STXBP1.

Summary

Novel genetic technologies have revolutionized our understanding of early-onset epilepsies and a molecular diagnosis can be found in a significant number of patients.

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Authors and Affiliations

  1. Division of Neurology, The Children’s Hospital of Philadelphia, 34th St and Civic Center Blvd, Philadelphia, PA, 19104, USA

    Ingo Helbig

  2. Department of Neuropediatrics, Christian-Albrechts-Univerisity of Kiel and University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany

    Ingo Helbig

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Correspondence to Ingo Helbig.

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Ingo Helbig declares that she has no conflict of interest.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Neurology

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Cite this article

Helbig, I. Understanding Genetic Test Results in Childhood Epilepsies. Curr Pediatr Rep 5, 24–29 (2017). https://doi.org/10.1007/s40124-017-0122-y

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  • DOI: https://doi.org/10.1007/s40124-017-0122-y

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