Advances in the precise diagnosis and treatment of genetic epilepsies

CHEN Yueyao , LI Juan, LONG Hongyu, XIAO Bo , LONG Lili

Journal of Neurology and Neurorehabilitation ›› 2025, Vol. 21 ›› Issue (6) : 455-466.

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Journal of Neurology and Neurorehabilitation ›› 2025, Vol. 21 ›› Issue (6) : 455-466. DOI: 10.12022/jnnr.2025-0264
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Advances in the precise diagnosis and treatment of genetic epilepsies

  • CHEN Yueyao1, 2, 3 , LI Juan1, 2, 3, 4 , LONG Hongyu1, 2, 3 , XIAO Bo1, 2, 3 , LONG Lili1, 2, 3
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Abstract

Hereditary epilepsy refers to a type of epilepsy in which seizures are directly triggered by genetic defects and constitute the core clinical manifestation of the disease. In recent years, with the rapid advancement of gene detection technologies, the genetic mechanisms associated with epilepsy have been progressively elucidated, thereby driving progress in the precision diagnosis and treatment of the condition. Genetic testing has become a crucial tool for the clinical diagnosis and management of hereditary epilepsy. Based on in-depth analysis of specific gene mutations and pathogenic mechanisms, more targeted individualized treatment plans can be developed for patients. This article aims to focus on the etiological classification of hereditary epilepsy and the latest research advances in its precision diagnosis and treatment. Overall, the prospects for precision medicine in hereditary epilepsy are promising. Moving forward, continued multidisciplinary collaboration and sustained efforts are needed to further integrate genetics into clinical practice for epilepsy.

Key words

Epilepsy / Gene / Hereditary / Precision therapy

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CHEN Yueyao , LI Juan, LONG Hongyu, XIAO Bo , LONG Lili. Advances in the precise diagnosis and treatment of genetic epilepsies[J]. Journal of Neurology and Neurorehabilitation. 2025, 21(6): 455-466 https://doi.org/10.12022/jnnr.2025-0264

Funding

1. National Natural Science Foundation of China (82371464,82171454)
2. Distinguished Young Scholars of Hunan Province, China (2024JJ2096)
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