This case report describes a boy aged 8 years with autism spectrum disorder who was diagnosed with electrical status epilepticus in sleep (ESES) and found to have a likely pathogenic variant in the SEMA6B gene. The patient presented with developmental regression and cognitive decline. An electroencephalogram demonstrated continuous spike-and-wave discharges during sleep, a hallmark of ESES. Genetic testing identified a De Novo likely pathogenic variant in SEMA6B, a gene implicated in neurodevelopmental disorders and epilepsy. Although the association between SEMA6B mutations and ESES is not well established, this case suggests that the genetic variant may have contributed to the patient's clinical presentation. This is the first reported instance of ESES being linked to a SEMA6B gene variant, highlighting the importance of genetic testing in similar cases. The findings could have significant implications for the understanding and management of ESES in autistic patients with behavioral difficulties. They also underscore the need for further research into the role of SEMA6B in epilepsy and neurodevelopmental disorders.

中文翻译：

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自闭症、睡眠中癫痫电状态和可能的致病性 SEMA6B 变体。


本病例报告描述了一名患有自闭症谱系障碍的 8 岁男孩，他被诊断患有睡眠癫痫持续状态 （ESES），并发现 SEMA6B 基因可能存在致病性变异。患者表现为发育倒退和认知能力下降。脑电图显示睡眠期间连续的棘波放电，这是 ESES 的标志。基因检测在 SEMA6B 中发现了一个可能的新发致病性变异，该基因与神经发育障碍和癫痫有关。尽管 SEMA6B 突变与 ESES 之间的关联尚未得到充分证实，但该病例表明遗传变异可能有助于患者的临床表现。这是 ESES 与 SEMA6B 基因变异相关的第一个报道实例，凸显了基因检测在类似病例中的重要性。这些发现可能对理解和管理有行为困难的自闭症患者 ESES 具有重大意义。他们还强调了进一步研究 SEMA6B 在癫痫和神经发育障碍中的作用的必要性。