Role of possible pathogenic genetic variants in epilepsy with structural etiology: relationship with surgical decision-making and prognosis prediction

doi:10.3877/cma.j.issn.1674-0785.2021.08.003

Abstract

Abstract:

Epileptic surgery is an effective treatment for drug-refractory epilepsy. The exploration of the connection between various possible disease-causing genetic variants and the surgical outcome is of benefit to presurgical evaluation. In this paper, we discuss the correlation of surgical indications and outcomes with possible pathogenic genetic variants, mainly those in hippocampal sclerosis, focal cortical dysplasia, tuberous sclerosis, hemimegalencephaly, hypothalamic hamartoma, and cavernous hemangioma. We also discuss the impact of somatic variants on surgical outcomes in epilepsy-related tumors. Based on the summarized data, we make some recommendations for the existing surgical decision-making.

Key words: Drug-refractory epilepsy, Germline variants, Somatic variants, Surgical indications, Surgical prognosis

Bocheng Zhou, Yu Sun, Ye Wu, Lixin Cai. Role of possible pathogenic genetic variants in epilepsy with structural etiology: relationship with surgical decision-making and prognosis prediction[J]. Chinese Journal of Clinicians(Electronic Edition), 2021, 15(08): 571-577.

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https://zhlcyszz.cma-cmc.com.cn/EN/Y2021/V15/I08/571

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