Epilepsy phenotypes in siblings with Norrie disease
Epilepsy phenotypes in siblings with Norrie disease
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DOI：
10.1016/j.braindev.2015.04.004
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发表时间：
2015-11-01
影响因子：
1.7
通讯作者：
Shimizu, Toshiaki
中科院分区：
文献类型：
--
作者：
Okumura, Akihisa;Arai, Eisuke;Shimizu, Toshiaki
诺里病是一种X连锁隐性遗传疾病，其特征是先天性失明。虽然在一些诺里病患者中观察到癫痫发作，但对这种现象知之甚少。在这里，我们报告的表现癫痫的同胞与诺里病，以增加我们的知识癫痫在这种情况下。三个先天性失明的兄弟被诊断为诺里病后，遗传分析表明NDP基因外显子2的缺失。大哥从11岁起就患有癫痫病，他的癫痫对抗癫痫药物有抗药性。虽然第二个兄弟没有癫痫发作，但最小的兄弟姐妹从8岁起就有癫痫发作的经历。使用拉莫三嗪和左乙拉西坦控制癫痫发作。脑电图（EEG）显示，在所有三个兄弟的枕骨区癫痫样放电。对这些患者的研究将增加我们对诺里病患者癫痫的认识。(C)2015日本儿童神经病学学会。Elsevier B.V.出版，保留所有权利。
Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge of epilepsy in this condition. Three brothers with congenital blindness were diagnosed with Norrie disease after genetic analyses indicated the deletion of exon 2 of the NDP gene. The eldest brother had suffered from epileptic seizures since the age of 11 years, and his seizures were resistant to antiepileptic drugs. Although the second brother had no epileptic seizures, the youngest sibling had experiences epileptic seizures since the age of 8 years. His seizures were controlled using lamotrigine and levetiracetam. An electroencephalography (EEG) revealed epileptiform discharges in the occipital areas in all three brothers. A study of these patients will increase our knowledge of epilepsy in patients with Norrie disease. (C) 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.