目的　分析以限于女性的癫痫伴智力低下为临床特点的原钙黏蛋白19（PCDH19）基因突变的临床及遗传学 特点。方法　回顾分析1例PCDH19基因突变致癫痫伴智力低下女性患儿的临床资料。结果　1岁11个月女性患儿，癫痫 发作并存在热敏感，发作有丛集性，形式多样，伴智力落后、孤独症样表现。基因测序发现PCDH19新发突变。发作间期脑 电图见右侧额中央及中线区少量尖波。头颅磁共振无明显异常。抗癫痫药物治疗效果差。结论　限于女性的癫痫伴智力 低下发作有热敏感、丛集性特点，早期行癫痫基因检测有助于明确诊断，提供遗传咨询。

Objective　To explore the clinic characteristics of epilepsy with mental retardation limited to females (EFMR) and the mutations of PCDH19 gene. Methods　The clinic feature, EEG, brain MRI, gene mutations detected by Sanger sequencing or targeted next generation sequencing and treatment were retrospectively analyzed. Results　The patient was a one year and eleven months old girl. Seizures onset was sensitive to heat, occurring in clusters and various forms. At the same time, the patient showed cognitive retardation and autism-like performance. A de novo PCDH19 gene mutation was found. Few spike waves were occurred in the EEG. The brain MRI was normal. The treatment of this disease’s epileptic attack was difficult. Conclusions　Onset in EFMR is characterized in clusters and sensitive to fever. Early epilepsy gene detection helps to evaluate prognosis of the disease and offers genetic counseling.