Clinical characteristics and drug efficacy evaluation of voltage-gated potassium channel-related genetic epilepsy

Ruo-ming LI; Chao-yang Chen; Ran Wei; Ying Zhou; Yi-min Cui; Ruo-ming LI; Ying Zhou; Yi-min Cui; Jie Zhang; Ye WU; Yi-min Cui

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Clinical characteristics and drug efficacy evaluation of voltage-gated potassium channel-related genetic epilepsy

Author: Ruo-Ming LI ¹ ; Chao-Yang CHEN ¹ ; Ran WEI ¹ ; Ying ZHOU ¹ ; Yi-Min CUI ¹ ; Ruo-Ming LI ² ; Ying ZHOU ² ; Yi-Min CUI ² ; Jie ZHANG ³ ; Ye WU ³ ; Yi-Min CUI ⁴
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1. Dept of Pharmacy, Peking University First Hospital
2. Dept of Pharmacy, Administration and Clinical Pharmacy, School of Pharmaceutical Sciences, Peking University Health Science Center
3. Dept of Pediatrics, Peking University First Hospital
4. Institute of Clinical Pharmacology, Peking University First Hospital
Publication Type:Journal Article
Keywords: antiepileptic therapy; epilepsy; genetic epilepsy; pediatric epilepsy; potassium channels; sodium channel blockers
From: Chinese Pharmacological Bulletin 2023;39(6):1068-1073
CountryChina
Language:Chinese
Abstract: Aim To analyze the genotype-phenotype characteristics of voltage-gated potassium channels (Kv) associated genetic epilepsy and evaluate the efficacy of anti-seizure medications(ASMs). Methods PubMed database was searched and patients meeting the inclusion criteria were included for analysis. We divided the patients into “benign”, “encephalopathic” and other phenotypes according to the clinical characteristics. We performed descriptive statistical analysis of patients' mutated genes, clinical phenotype and drug efficacy, and used logistic regression to explore the influencing factors of treatment outcome. Results Data of 474 children were included for analysis. There were significant differences among different phenotypes in mutated genes, source of mutations and so on. In terms of clinical characteristics, there were also significant differences between patients with different phenotypes in age of onset, combined developmental delay and so on. In terms of monotherapy, phenobarbital was the most common treatment choice for children with “benign” phenotype, and sodium channel blockers (SCBs) were the most common treatment choice for children with “encephalopathy” phenotype, and the efficacy of SCBs monotherapy was superior to that of other ASMs. Multivariate Logistic analysis of the children receiving monotherapy showed that whether the children were combined with developmental delay and whether SCBs were used were significant factors influencing the efficacy of drug therapy. Conclusions Patients with the “benign” and “encephalopathic” phenotypes differ in several aspects of genetic variation, clinical characteristics, and drug selection. These results suggest that SCBs may be one of the recommended options for monotherapy.