Vagus nerve stimulation in KCNB1-related developmental and epileptic encephalopathy: A case of seizure reduction and review of literature

IF 1.5 Q3 CLINICAL NEUROLOGY
Taichi Sayanagi , Kenzo Kosugi , Eri Ogawa , Toshiki Takenouchi , Mamiko Yamada , Kenjiro Kosaki , Ichiro Sugiyama , Masahiro Toda
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引用次数: 0

Abstract

Developmental and epileptic encephalopathies (DEEs) are devastating syndromes characterized by early-onset, treatment-resistant seizures, and significant developmental delays. KCNB1-related DEE, arising from pathogenic variants in the KCNB1 gene, presents with profound cognitive impairment and persistent seizures despite multiple antiseizure medications (ASMs). Vagus nerve stimulation (VNS) has emerged as a valuable adjunctive therapy for medically intractable epilepsy, yet its effectiveness in rare genetic DEEs remains unknown. We report the first case of VNS in a 5-year-old child with KCNB1-related DEE, achieving about 90% seizure reduction after one year. Prior treatments with multiple ASMs had minimal effect. After VNS implantation, optimized stimulation parameters combined with fenfluramine markedly improved seizure control. Although concurrent medication adjustments and transient seizure cessation during infection complicated interpretation, the sustained seizure improvement strongly suggests VNS’s efficacy in this genetic epilepsy.
This case illustrates VNS’s potential benefit and possible synergy with fenfluramine in KCNB1-related DEE. Further accumulation of case reports is necessary to confirm these findings.
迷走神经刺激治疗与kcnb1相关的发育性和癫痫性脑病:一例癫痫发作减少和文献复习
发展性和癫痫性脑病(dee)是一种破坏性综合征,其特征是早发、治疗难治性癫痫发作和显著的发育迟缓。KCNB1相关DEE由KCNB1基因的致病变异引起,表现为严重的认知障碍和持续癫痫发作,尽管使用了多种抗癫痫药物(asm)。迷走神经刺激(VNS)已成为治疗难治性癫痫的一种有价值的辅助治疗方法,但其对罕见遗传性癫痫的有效性尚不清楚。我们报告了一例与kcnb1相关的DEE的5岁儿童的VNS,一年后癫痫发作减少了约90%。先前的多次asm治疗效果甚微。VNS植入后,优化刺激参数联合芬氟拉明明显改善癫痫发作控制。虽然在感染期间同时进行药物调整和短暂性癫痫发作停止的解释很复杂,但持续的癫痫发作改善强烈表明VNS对这种遗传性癫痫的疗效。该病例说明了VNS与芬氟拉明在kcnb1相关DEE中的潜在益处和可能的协同作用。需要进一步积累病例报告来证实这些发现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Epilepsy and Behavior Reports
Epilepsy and Behavior Reports Medicine-Neurology (clinical)
CiteScore
2.70
自引率
13.30%
发文量
54
审稿时长
50 days
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