Genetic analysis of genes associated with epilepsy
Main Article Content
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.
References
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