Lissencephaly spectrum disorders caused by CEP85L gene variation:one case report and literature review
LIU Zhao-xia
ZUO Jing-wen
DAI Ying-yue
ZHANG Jia-ying
SHAO Xiao-qiu
WANG Qun
LÜ Rui-juan
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.
Keywords：Classical lissencephalies and subcortical band heterotopiasDrug resistant epilepsyGenesMutation
Publication Date：2025-11-25
Online Publishing Date：2025-12-16(First online date of this platform, not the publication date of the document)
Pages：7( 1027-1033 )