关键词: PCDH19, 限于女性的癫痫伴智力落后, 基因突变, Dravet综合征, 误诊, 儿童

Abstract: Objective To improve the ability of clinicians in early disease identification and reduce misdiagnosis and missed diagnosis by analyzing the genetic characteristics and clinical phenotype of 4 cases of PCDH19 gene-related epilepsy misdiagnosed.
Methods The clinical data of 4 children with epilepsy related to PCDH19 gene misdiagnosed from 2017 to 2018 were retrospectively analyzed, and the genetic characteristics of the patients were analyzed by Next generation sequencing. The clinical characteristics of the disease and the causes of misdiagnosis were summarized based on the cases in the literature.
Results All the 4 children were female, with recurrent fever and convulsion as clinical symptoms, which showed a general rigidity attack, and all of them were characterized by cluster seizures and heat sensitivity. Two patients had different degrees of language developmental disorders. Genetic testing showed that all the 4 children had heterozygous mutation of PCDH19 gene, which were de novo and pathogenic.
Conclusion PCDH19 gene-related epilepsy is rare and the symptoms are similar to those of Dravet syndrome, which is likely to be misdiagnosed or missed, but the prognosis is relatively good. The clinical understanding of PCDH19 gene-related epilepsy should be improved, which will be helpful for the early diagnosis and proper treatment of children with epilepsy, as well as provide follow-up guidance for family genetic counseling and prenatal diagnosis.

Key words: PCDH19, EFMR, Gene mutation, Dravet syndrome, Misdiagnosis, Child