Clinical and genetic analysis of patients of PCDH19 gene related epilepsy
Objective To investigate the clinical and gene variant characteristics of PCDH19 gene related epilepsy,and improve the ability of clinicians in early disease identification.Methods The clinical data of 3 PCDH19 gene related epilepsy patients admitted to Children's Hospital Affiliated to Zhengzhou University from October 2018 to August 2023 diagnosed by gene detection were reviewed and analyzed.Results All the patients are female,and the onset age of seizure ranged in their infancy.Seizures in clusters and fever sensitivity were observed in all patients,and were very hard to control by single-drug treatment.Proband 1 was seizure-free after 2 kinds of anti-epileptic drug treatment,but with mild degree of intellectual disability.Proband 2 had refractory epilepsy with severe degree of intellectual disability.Proband 3 was seizure-free after 2 kinds of anti-epileptic drug treatment and without intellectual disability.In the first family,the proband carried heterozygous c.369C＞G variant in the PCDH19 gene which was identified as de novo after parental validation.In the second family,the proband carried c.1652T＞A variant inherited from her mother.In the third family,the proband carried c.278G＞A variant inherited from her father.The 3 mutations had not been reported in the Human Gene Mutation Database.Conclusions PCDH19gene related epilepsy is one special kind of X-linked inherited epilepsy syndrome characterized by seizures in clusters and sensitivity to fever.And gene detection can help with early diagnosis and make rational clinical strategies in time.The variants c.369C＞G,c.1652T＞A and c.278G＞A have enriched the gene variant spectrum of PCDH19.
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