Intractable Epilepsy and Gene Study
Journal Title: International Journal of Surgery & Surgical Techniques - Year 2024, Vol 8, Issue 1
Abstract
Approximately 20% of epileptic children resist anti-seizure medications (ASMs). Management of these cases is complex and needs many pre-requisites. A Gene study is a part of the assessment in epilepsy cases and adjusts according to the physician’s decision. We conducted a gene study and assessed the response to ASMs. Material & Methods: All the ASMs resistant cases that were suspected of genetic epilepsy, did not have metabolic/structural etiology or neurodegenerative disease, and were referred for genetic study between Jan 2014 to Dec 2021 were enrolled. The records of 52 cases were assigned in our registry. The name of the gene extracted and the response to ASMs evaluated. The mean age was 6.65 years old; 24 (46.2%) were boys and 28 (53.8%) were girls. Results: The most common found genes were SCN1A, CAD1, IQSEC2, SLc6A1, AP3B2, SLC25A22, and KCNJ10. The complete response rate was seen in 20 cases (38.46%). Conclusion: In conclusion, further studies should be profit to make a link between gene type and drug response and achieve a better seizure- free response. If this happened, precision medicine would be more achievable
Authors and Affiliations
Mirzadeh HS, Ashrafzadeh F, Akhondian J, Karimiani EG, Toosi MB, Imannezhad S, Hashemi N, Tohidi H and Farajirad E*
Keywords
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