Bromide in Patients with SCN1A-Mutations Manifesting as Dravet Syndrome

Bromide in Patients with SCN1A-Mutations Manifesting as Dravet Syndrome
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DOI:
10.1055/s-0032-1307454
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发表时间:
2012-02-01
期刊:
影响因子:
1.4
通讯作者:
Kluger, Gerhard Josef
Kluger, Gerhard Josef
中科院分区:
医学4区
文献类型:
--
作者:
Lotte, Jan;Haberlandt, Edda;Kluger, Gerhard Josef

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我们报告了一项回顾性分析,对32例接受溴化治疗的伴有scn1a突变的Dravet综合征患者进行溴化治疗。溴化治疗3个月后,26例患者(81%)表现出相关改善,18例(12例)患者(分别为56%和37%)癫痫发作频率降低50%(75%)。12个月后,我们观察到15(9)例患者(分别为47%和28%)的>减少50%(>减少75%)。18例患者(56%)出现长期缓解。5/32例患者不良反应以轻度或中度为主,导致终止治疗;无加重报告。我们得出结论,溴化物对患有Dravet综合征的scn1a突变患者有希望。
We report a retrospective analysis of bromide therapy in 32 patients suffering from Dravet syndrome with SCN1A-mutations who received bromide. After 3 months of bromide treatment, 26 patients (81%) showed a relevant improvement with a reduction of seizure frequency by >50% (>75%) in 18 (12) patients (56 and 37%, respectively). After 12 months, we observed a reduction of >50% (>75%) in 15 (9) patients (47 and 28%, respectively). Long-term response was noted in 18 patients (56%). Adverse reactions were mainly mild or moderate leading to treatment termination in 5/32 patients; no aggravation was reported. We conclude that bromide holds promise in patients with SCN1A-mutations suffering from Dravet syndrome.