Quinidine therapy for West syndrome with KCNTI mutation: A case report
Quinidine therapy for West syndrome with KCNTI mutation: A case report
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DOI：
10.1016/j.braindev.2016.08.002
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发表时间：
2017-01-01
影响因子：
1.7
通讯作者：
Matsumoto, Naomichi
中科院分区：
文献类型：
--
作者：
Fukuoka, Masataka;Kuki, Ichiro;Matsumoto, Naomichi
KCNTI 基因编码钠依赖性钾通道，奎尼丁是 KCNTI 通道的部分拮抗剂。功能获得性 KCNTI 突变会导致早发性癫痫性脑病，包括婴儿期迁移性部分性癫痫发作 (MPSI)。 5个月大时，我们的患者通过脑电图检查发现癫痫痉挛和高度节律失常。从婴儿早期就观察到精神运动迟缓。该患者被诊断患有韦斯特综合征。因此，尝试了各种抗癫痫药物、促肾上腺皮质激素治疗（两次）和生酮饮食治疗。然而，癫痫痉挛却很难治愈。全外显子组测序鉴定出 KCNTI 突变（c.1955G>T；p.G652V）。 2岁零6个月时，尽管接受了丙戊酸和拉莫三嗪治疗，患者仍每天出现癫痫痉挛，因此入院接受奎尼丁治疗。通过奎尼丁治疗，发作间期脑电图观察到癫痫痉挛减少和癫痫样阵发性活动减少。在发育方面，牙牙学语、反应能力、经口进食和肌肉张力均得到改善。仅观察到短暂性腹泻作为不良反应。因此，对于由 KCNTI 突变引起的 West 综合征患者，如 MPSI 的报道，应尝试奎尼丁治疗。 (C) 2016 年日本儿童神经病学学会。由 Elsevier B.V. 出版。保留所有权利。
The KCNTI gene encodes the sodium-dependent potassium channel, with quinidine being a partial antagonist of the KCNTI channel. Gain-of-function KCNTI mutations cause early onset epileptic encephalopathies including migrating partial seizures of infancy (MPSI). At 5 months of age, our patient presented with epileptic spasms and hypsarrhythmia by electroencephalogram. Psychomotor retardation was observed from early infancy. The patient was diagnosed with West syndrome. Consequently, various anti epileptic drugs, adrenocorticotropic hormone therapy (twice), and ketogenic diet therapy were tried. However, the epileptic spasms were intractable. Whole exome sequencing identified a KCNTI mutation (c.1955G>T; p.G652V). At 2 years and 6 months, the patient had daily epileptic spasms despite valproate and lamotrigine treatment, and was therefore admitted for quinidine therapy. With quinidine therapy, decreased epileptic spasms and decreased epileptiform paroxysmal activity were observed by interictal EEG. Regarding development, babbling, responsiveness, oral feeding and muscle tone were ameliorated. Only transient diarrhea was observed as an adverse effect. Thus, quinidine therapy should be attempted in patients with West syndrome caused by KCNTI mutations, as reported for MPSI. (C) 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.