Genetic analysis of genes associated with epilepsy

Main Article Content

Giulia Guerri
Marco Castori
Leonardo D'Agruma
Antonio Petracca
Danjela Kurti
Matteo Bertelli

Keywords

epilepsy, genetic test, molecular diagnosis

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.

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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.
2. Pellock JM. The challenge of neuropsychiatric issues in pediatric epilepsy. J Child Neurol 2004; 19: S1-5.
3. Diagnosis and management of epilepsy in adults. A national clinical guideline, 2015. Available at: https://www.guidelinecentral.com/share/summary/56a775bf791d0#section-society
4. Thurman DJ, Beghi E, Begley CE, et al. Standards for epidemiologic studies and surveillance of epilepsy. Epilepsia 2011; 52: 2-26.
5. 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.
6. Walls R, Hockberger R, Gausche-Hill M. Rosen's emergency medicine: concepts and clinical practice. Mosby/Elsevier, Philadelphia. 2010.
7. Pong AW, Pal DK, Chung WK. Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. Pediatr Neurol 2011; 44: 317-27.
8. Wang J, Gotway G, Pascual JM, Park JY. Diagnostic yield of clinical next-generation sequencing panels for epilepsy. JAMA Neurol 2014; 71: 650-1.
9. Della Mina E, Ciccone R, Brustia F, et al. Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform. Eur J Hum Genet 2015; 23: 354-62.
10. https://www.lice.it/pdf/Percorso_diagnostico_Epilessie_Genetiche_web.pdf