Abstract: Objective To report a case of subcortical band heterotopia (SBH) caused by CEP85L gene variation, summarize its clinical characteristics, and conduct a literature review to delineate the pathogenesis, clinical and imaging features, treatment, and prognosis of lissencephaly (LIS) spectrum disorders associated with pathogenic variation in CEP85L gene. Methods and Results A 40-year-old female diagnosed as SBH due to a variation of CEP85L gene presented with drug-resistant epilepsy (DRE), and brain MRI showed posterior predominant SBH. The patient underwent ¹⁸F-FDG PET scan, showing hypometabolism in the posterior regions. Genetic test revealed that the patient had c.174T > A (p.Ser58Arg) heterozygous mutation in the second exon of CEP85L gene, and the genotype of her parents showed wild type. The patient was diagnosed as posterior predominant SBH caused by the CEP85L gene variation. After the adjustment of antiepileptic seizure medicine (ASM) and performing transcutaneous auricular vagus nerve stimulation (taVNS), the frequency of seizures decreased, but remained relatively frequent. Conclusions The CEP85L gene variation is a rare cause of posterior predominant LIS spectrum disorders. Seizures are the most common clinical manifestation, and most patients present with DRE. The majority of patients are not suitable for surgical treatment. The case reported here expands the genetic lineage and clinical phenotypic spectrum of LIS spectrum disorders.

Key words: Classical lissencephalies and subcortical band heterotopias, Drug resistant epilepsy, Genes, Mutation

摘要： 目的 报道1例CEP85L基因变异致皮质下带状灰质异位患者的临床特点，并复习相关文献，总结CEP85L基因变异致无脑回畸形谱系疾病的发病机制、临床表现、影像学特点以及治疗与预后。方法与结果 首都医科大学附属北京天坛医院2022年9月收治1例40岁女性CEP85L基因变异致皮质下带状灰质异位患者，临床表现为药物难治性癫痫；头部MRI显示后头部为主的皮质下带状灰质异位，¹⁸F-FDG PET显示后头部为主的低代谢；基因检测显示CEP85L基因外显子2 c.174T > A（p.Ser58Arg）杂合突变，其父母均为野生型。临床诊断为CEP85L基因变异致后头部皮质下带状灰质异位，调整抗癫痫发作药物治疗方案并行经耳迷走神经电刺激后，发作频率有所减少，但仍较频繁。结论 CEP85L基因变异是后头部为主的无脑回畸形谱系疾病的罕见病因，癫痫发作是最常见临床表现，且多为药物难治性癫痫，多数患者不适宜手术治疗。本文病例扩大了无脑回畸形谱系疾病的基因谱及临床表型谱。

关键词: 经典无脑回畸形和皮层下带状灰质异位症, 耐药性癫痫, 基因, 突变