IDENTIFICATION AND ANALYSIS OF GENETIC EPILEPSY AND EPILEPTIC ENCEPHALOPATHIES IN THE OUTPATIENT PRACTICE OF EPILEPSY SPECIALISTS

Olga Rakhmanina, Iosif Volkov, Olga Shestakova, Tatyana Tomenko, Oksana Volkova, Оleg Belyaev, Elena Levitina
  MNJ, pp. 31-33  

Abstract


Background: Given the significant share of gene mutations in the etiology of epilepsy, it is important for the practitioners to evaluate progress in this area.

Objective: To describe the spectrum of being detected gene mutations in patients with epilepsy or epileptic encephalopathy in clinical practice of neurologists specializing in epilepsy with an analysis of diagnosed epileptic syndromes, the characteristics of seizures, the timing of a genetic diagnosis, options and treatment efficacy.

Methods: The study included 100 patients (40 boys, 60 girls) with epilepsy/epileptic encephalopathy and a gene mutation identified. The average age was 6.9±5.1 years. Through remote access, epilepsy specialists filled out a specially designed unified table containing information from outpatient case history.

Results: In the outpatient practice of epilepsy specialists, there are patients with a wide range of gene mutations, the leading of which is a mutation in the SCN1A gene (15%). Nowadays, the main method (85%) of detection remains the next generation sequencing in the “Hereditary Epilepsy” panel. Years pass from the onset of the disease to the genetic diagnosis (Me - 3 years). In most cases, patients with severe (52% have epileptic encephalopathy, 88% have developmental disorders) and pharmacoresistant (mean amount of anti-epileptic drugs - 3,8±2,2, multitherapy -70%) syndromes have undergone genetic testing. In the treatment of these patients epileptologists are increasingly (52%) use alternative methods: steroids, ketogenic diet and others. The absence of seizures was observed only in 46% of patients.

Conclusion: Thus, in the outpatient practice of epileptologists of Russia, patients with a wide range of gene mutations are found. As a rule, these are patients with severe, therapy-resistant epileptic syndromes.


Keywords


Epilepsy, epileptic encephalopathy, genetics

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References


Hildebrand MS, Dahl HH, Damiano JA et al. Recent advances in the molecular genetics of epilepsy. J Med Genet. 2013; 50(5):271-9. DOI: 10.1136

Pong AW, Pal DK, Chung WK. Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. Pediatr Neurol. 2011; 44(5):317-27. DOI: 10.1016/j.pediatrneurol.2011.01.017.

Ream MA, Patel AD. Obtaining genetic testing in pediatric epilepsy. Epilepsia. 2015;56(10):1505–14. DOI: 10.1111/epi.13122

Wofford S, Noblin S, Davis JM et al. Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions. J Child Neurol. 2019 Jan 4: 883073818821036. DOI: 10.1177/0883073818821036.

Semenova NA, Dadali EL, Sharkov AA et al. Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy. Neuromuscular Diseases. 2017;7(3):36-42. DOI: 10.17650/2222-8721-2017-7-3-36-42

Dadali EL, Sharkov AA, Sharkova IV et al. Hereditary diseases and syndromes accompanied by febrile convulsions: clinical and genetic characteristics and diagnostic procedures. Russian journal of child neurology. 2016; 11(2): 33-41. DOI: 10.17650/2073-8803-2016-11-2-33-41

Belousova ED. Genetics of Epilepsy: What for and How to Examine Children with Epilepsy. Neurology, Neuropsychiatry, Psychosomatics. 2014;(1S):4–8. DOI: 10.14412/2074-2711-2014-1S-4-8

Dadali EL, Konovalov FA, Akimova IA et al. Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients. Neuromuscular Diseases. 2018; 8(2):42–52. DOI: 10.17650/2222-8721-2018-8-2-42-52

Sisodiya SM. Genetic screening and diagnosis in epilepsy? Curr Opin Neurol. 2015;28(2):136-42. DOI: 10.1097/WCO.0000000000000180.

Sharkov A.A., Sharkova I.V., Belousova E.I. et al. Genetics and treatment of early infantile epileptic encephalopathies. S.S. Korsakov Journal of Neurology and Psychiatry. 2016; 9(2): 67-73. DOI: 10.17116/jnevro20161169267-73

Sharkov AA, Konovalov FA, Sharkova IV et al. Molecular genetic approaches to the diagnosis of epileptic encephalopathies. I Baltic Congress on Pediatric Neurology. Book of Congress abstracts. St. Petersburg: Publishing House "Man and His Health"; 2016: 391-2. Avalaible from: https://congress-ph.ru/common/htdocs/upload/fm/d-nevro/16/tezis.pdf

Kato M, Yamagata T, Kubota M, Arai H et al. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia. 2013; 54(7):1282-7. DOI: 10.1111/epi.12200.

Snoeijen-Schouwenaars FM, van Ool JS, Verhoeven JS et al. Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. Epilepsia. 2019; 60(1):155-164. DOI: 10.1111/epi.14618

Kwan P., Brodie M.J. Early identification of refractory epilepsy. N Engl J Med. 2000; 342 (5). – P. 314-9. DOI: 10.1056/NEJM200002033420503


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