Early-onset epileptic encephalopathy with myoclonic seizures related to 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes
Early-onset epileptic encephalopathy with myoclonic seizures related to 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes
复制标题
DOI：
10.1684/epd.2018.0969
复制
发表时间：
2018-06-01
影响因子：
2.3
通讯作者：
Veerapandiyan, Aravindhan
中科院分区：
文献类型：
--
作者：
Aravindhan, Akilandeswari;Shah, Kinal;Veerapandiyan, Aravindhan
我们描述了一个10个月大的男孩与早发性癫痫性脑病谁被发现有一个半合子缺失9q33.3-q34.11涉及STXBP 1和SPTAN 1基因。他在2.5个月大时出现频繁的上肢肌阵挛、肌张力减退和面部畸形。发作间期脑电图在清醒和睡眠时均表现为多灶性多棘波。发作期脑电图显示低振幅广泛的急剧缓慢活动，其次是弥漫性衰减。代谢测试没有发现。脑部MRI显示胼胝体变薄，无喙。该患者是第二例报告的与癫痫性脑病和肌阵挛性癫痫发作相关的9q33.3-q34.11缺失，涉及STXBP 1和SPTAN 1基因。需要更大的病例系列来更好地描述这种关联。
We describe a 10-month-old boy with early-onset epileptic encephalopathy who was found to have a hemizygous deletion in 9q33.3-q34.11 involving STXBP1 and SPTAN1 genes. He presented at the age of 2.5 months with frequent upper extremity myoclonus, hypotonia, and facial dysmorphisms. Interictal EEG showed multifocal polyspike and wave during wakefulness and sleep. Ictal EEG revealed low-amplitude generalized sharp slow activity, followed by diffuse attenuation. Metabolic testing was unrevealing. Brain MRI showed thinning of the corpus callosum with an absence of rostrum. This patient is the second reported case with 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes associated with epileptic encephalopathy and myoclonic seizures. Larger case series are needed to better delineate this association.