目的 报道CACNA1E基因变异所致难治性癫痫的临床特征。方法 回顾分析1例CACNA1E基因变异所致 难治性癫痫患儿的临床资料。结果 患儿，男，1岁6个月，因难治性癫痫伴智力运动发育落后就诊。患儿四肢肌张力降低， 有严重的癫痫脑病表现，基因检测提示患儿携带CACNA 1 E基因c.4258（exon30）G>A（NM_001205293）新发杂合变异， 而其父母该位点均为野生型。根据ACMG（The American College of Medical Genetics and Genomics）标准与指南（2015）， 该变异为可能致病性变异。结论 对难治性癫痫伴有智力运动发育落后、四肢肌张力低下的患儿应尽早完善基因检测，以 明确诊断。

Objective To explore the clinical features of intractable epilepsy caused by CACNA1E gene mutation. Method The clinical data of intractable epilepsy caused by CACNA1 E gene mutation in a child were retrospectively analyzed. Results A boy, aged 1 year and 6 months, was brought to the clinic due to intractable epilepsy with mental and motor retardation. He had hypotonia and severe epileptic encephalopathy performance. Genetic testing found that the child carried a new heterozygous mutation of c. 4258 (exon 30 ) G>A (NM_ 001205293 ) in CACNA 1 E gene, and both his parents were wildtype at this locus. The variant was classified as likely pathogenic according to the ACMG (The American College of Medical Genetics and Genomics) criteria ( 2015 ). Conclusion For children with intractable epilepsy accompanied by mental retardation and hypotonia, genetic testing should be performed as soon as possible to make a clear diagnosis.