低剂量芬拉胺作为"非典型"德拉维特综合征的有效治疗选择
Akihiro Iguchi1, Tokito Yamaguchi1, Tomona Yabe1
1Department of Pediatrics, National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886, Urushiyama, Aoi-ku, Shizuoka 420-8688, Japan.
Epilepsy & behavior reports
|October 21, 2024
概括
德拉维特综合征 (DS) 可以呈现异常. 一个罕见的案例突出显示,在没有遗传突变和异常MRI发现的患者中,芬拉胺治疗发作和认知改善的有效性.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 儿科症 儿科症
背景情况:
- 德拉维特综合征 (DS) 是一种严重的,其特点是耐火性和智力障碍.
- 典型的DS诊断包括遗传突变,复发性状态和正常的大脑MRI.
- 抗发作药物耐药性是德拉维特综合征的一个标志.
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