BACKGROUND Seizures are an under-reported feature of the SATB2-associated syndrome phenotype. We describe the electroencephalographic findings and seizure semiology and treatment in a population of individuals with SATB2-associated syndrome. METHODS We performed a retrospective review of 101 individuals with SATB2-associated syndrome who were reported to have had a previous electroencephalographic study to identify those who had at least one reported abnormal result. For completeness, a supplemental survey was distributed to the caregivers and input from the treating neurologist was obtained whenever possible. RESULTS Forty-one subjects were identified as having at least one prior abnormal electroencephalography. Thirty-eight individuals (93%) had epileptiform discharges, 28 (74%) with central localization. Sleep stages were included as part of the electroencephalographies performed in 31 individuals (76%), and epileptiform activity was recorded during sleep in all instances (100%). Definite clinical seizures were diagnosed in 17 individuals (42%) with a mean age of onset of 3.2 years (four months to six years), and focal seizures were the most common type of seizure observed (42%). Six subjects with definite clinical seizures needed polytherapy (35%). Delayed myelination and/or abnormal white matter hyperintensities were seen on neuroimaging in 19 individuals (61%). CONCLUSIONS Epileptiform abnormalities are commonly seen in individuals with SATB2-associated syndrome. A baseline electroencephalography that preferably includes sleep stages is recommended during the initial evaluation of all individuals with SATB2-associated syndrome, regardless of clinical suspicion of epilepsy.

中文翻译：

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SATB2 相关综合征中的癫痫和脑电图异常。


背景 癫痫发作是 SATB2 相关综合征表型的一个未被充分报道的特征。我们描述了 SATB2 相关综合征个体的脑电图检查结果、癫痫症状学和治疗。方法 我们对 101 名 SATB2 相关综合征患者进行了回顾性评估，据报道这些患者之前曾进行过脑电图研究，以确定至少有一项报告异常结果的患者。为了完整起见，向护理人员分发了一份补充调查，并尽可能获得治疗神经科医生的意见。结果 41 名受试者被确定为至少有一次脑电图异常。 38 人 (93%) 出现癫痫样放电，其中 28 人 (74%) 出现中枢性放电。睡眠阶段被纳入对 31 名个体（76%）进行脑电图检查的一部分，并且记录了所有病例（100%）在睡眠期间的癫痫样活动。 17 名个体 (42%) 被诊断出明确的临床癫痫发作，平均发病年龄为 3.2 岁（4 个月至 6 岁），局灶性癫痫发作是最常见的癫痫发作类型 (42%)。六名患有明确临床癫痫发作的受试者需要进行综合治疗（35%）。 19 名个体（61%）的神经影像学结果显示髓鞘形成延迟和/或白质异常高信号。结论 癫痫样异常常见于 SATB2 相关综合征患者。无论临床怀疑是否患有癫痫，在对所有患有 SATB2 相关综合征的个体进行初步评估时，建议进行基线脑电图检查，最好包括睡眠阶段。