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Diagnosis and follow-up of a PCDH19 epilepsy patient
Yanzhao Chen1, Yaming Xia2, Lipeng Chen3
1Department of Pediatrics.
Insights
Whole exome sequencing diagnosed Developmental and Epileptic Encephalopathy 9 (DEE9) in a pediatric patient with recurrent seizures. Long-term follow-up confirmed treatment effectiveness and normal intelligence, highlighting genetic testing for atypical DEE9 cases.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Developmental and Epileptic Encephalopathy 9 (DEE9) is an X-linked disorder causing infantile-onset seizures.
- Mutations in the protocadherin 19 (PCDH19) gene are the primary cause of DEE9.
- Accurate diagnosis and management are crucial for affected children.
Purpose of the Study:
- To detail the diagnostic journey of a female pediatric patient with recurrent seizures attributed to DEE9.
- To present the long-term follow-up and treatment outcomes.
- To evaluate the utility of genetic testing in diagnosing atypical DEE9 presentations.
Main Methods:
- Clinical presentation of recurrent epileptic seizures and abnormal EEG findings.
- Whole exome sequencing (WES) performed on the patient and parents.
- Sanger sequencing for variant validation.
Main Results:
- A heterozygous PCDH19 variant (NM_001105243: c.695A>G) was identified, confirming PCDH19-female limited epilepsy.
- A 4-year follow-up revealed normal intelligence, contrasting with previously reported phenotypes for this variant.
- Treatment strategies were assessed for efficacy.
Conclusions:
- Whole exome sequencing is effective in diagnosing DEE9, even in cases with atypical symptoms.
- Long-term follow-up demonstrated treatment efficacy and highlighted phenotypic variability.
- Genetic testing provides crucial information for diagnosis, genetic counseling, and treatment planning in DEE9.
Objective:
Developmental and epileptic encephalopathy 9 (DEE9) is an X-linked genetic disorder characterized by the onset of seizures during infancy. Mutations in protocadherin 19 ( PCDH19 ) are the main cause of DEE9. Our study aims to demonstrate the diagnostic process and long-term follow-up of a female pediatric case presenting with recurrent seizures.
Methods:
In the present study, a female child presented with recurrent epileptic seizures and findings of abnormal synchronous discharges on electroencephalograms. Whole exome sequencing (WES) was performed on the proband and her parents to identify potential genetic variants.
Results:
A heterozygous variant (NM_001105243: c.695A>G) in PCDH19 was identified and validated using Sanger sequencing. Based on clinical features and genetic analyses, the patient was diagnosed with PCDH19 -female limited epilepsy. Furthermore, a 4-year follow-up was conducted to assess the impact of the pathogenic variant on phenotype and treatment outcomes. The patient exhibited normal intelligence, which differed with the clinical features reported in other studies involving the same variant.
Conclusion:
WES confirmed the diagnosis of DEE9, and subsequent follow-up highlighted the effectiveness of the treatment. Therefore, genetic testing can improve the diagnosis of DEE9, particularly in cases with atypical symptoms, and provide valuable insights for genetic counseling and clinical treatment strategies.
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