Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2020 Nov 9;91(13-S):e2020005.
doi: 10.23750/abm.v91i13-S.10596.

Genetic analysis of genes associated with epilepsy

Giulia Guerri  1 , Marco Castori  2 , Leonardo D'Agruma  3 , Antonio Petracca  4 , Danjela Kurti  5 , Matteo Bertelli  6
Affiliations
Review

Genetic analysis of genes associated with epilepsy

Giulia Guerri et al. Acta Biomed. .

Abstract

Background and aim: Epilepsy is a neurological disorder in which the altered activity of neurons causes convulsions, periods of unusual behavior and, sometimes, loss of consciousness. The aim of this mini-review is to summarize all the syndromes characterized by epilepsy and for which the associated gene is known.

Methods: We searched those syndromes in PubMed and OMIM database.

Results: Genetic causes underlie epilepsy in about 40% of individuals. Epilepsies are phenotypically and genetically heterogeneous. Inheritance can be autosomal dominant or recessive or X-linked recessive/dominant.

Conclusion: Since epilepsy has high genetic heterogeneity, in diagnostics, the parallel sequencing of a panel of genes may speed up the determination of the molecular etiology and/or establish a risk of recurrence in family members for the purpose of planning appropriate preventive and/or therapeutic measures.

PubMed Disclaimer

Conflict of interest statement

Each author declares that he or she has no commercial associations (e.g. consultancies, stock ownership, equity interest, patent/licensing arrangement etc.) that might pose a conflict of interest in connection with the submitted article

References

    1. Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on classification and terminology, 2005-2009. Epilepsia. 2010;51:676–85. - PubMed
    1. Pellock JM. The challenge of neuropsychiatric issues in pediatric epilepsy. J Child Neurol. 2004;19:S1–5. - PubMed
    1. Diagnosis and management of epilepsy in adults. A national clinical guideline. 2015 Available at: https://www.guidelinecentral.com/share/summary/56a775bf791d0#section-soc... .
    1. Thurman DJ, Beghi E, Begley CE, et al. Standards for epidemiologic studies and surveillance of epilepsy. Epilepsia. 2011;52:2–26. - PubMed
    1. National Clinical Guideline Centre (UK) The epilepsies: the diagnosis and management of the epilepsies in adults and children in primary and secondary care. London: Royal College of Physicians (UK) 2012