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Seizure course of PCDH19 clustering epilepsy in female children: A multicentre cohort study in China
Yi Chen1, Aijie Liu2, Xiaoli Zhang3
1Department of Pediatrics, Peking University First Hospital, Beijing, China.
Insights
PCDH19 clustering epilepsy (PCDH19-CE) in girls shows increasing seizure freedom with age, but relapses are common. Caution is advised when reducing antiseizure medications in children under 10.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- PCDH19 clustering epilepsy (PCDH19-CE) is a rare genetic epilepsy syndrome.
- Understanding the long-term seizure course is crucial for managing this condition.
Purpose of the Study:
- To investigate the seizure course and identify prognostic factors for seizure freedom in female children with PCDH19-CE in China.
- To provide insights into the relapsing-remitting nature of PCDH19-CE.
Main Methods:
- An ambidirectional cohort study involving 113 female patients with PCDH19-CE.
- Multicentre collaboration was utilized.
- Multivariate Cox regression analysis was performed to evaluate prognostic factors for seizure freedom.
Main Results:
- The median seizure course was 6 years and 6 months.
- Seizure freedom for at least 1 and 2 years was achieved by 78% and 56% of patients, respectively.
- Relapse occurred in 58% of patients, often triggered by fever or antiseizure medication (ASM) reduction, with an 84% risk of relapse after ASM reduction.
Conclusions:
- Seizure freedom in PCDH19-CE gradually increases with age, but the condition is characterized by relapsing-remitting seizures.
- Early seizure onset and developmental delay are associated with a reduced likelihood of seizure freedom.
- Careful consideration of ASM reduction is necessary for patients under 10 years old.
Aim:
To investigate the seizure course of PCDH19 clustering epilepsy (PCDH19-CE) in a cohort of female children in China.
Method:
This ambidirectional cohort study examined 113 female patients with PCDH19-CE through multicentre collaboration. Prognostic factors for seizure freedom were evaluated by multivariate Cox regression analysis.
Results:
The median seizure course period from seizure onset was 6 years 6 months. Of 113 patients, 78% and 56% experienced seizure freedom for at least 1 year and at least 2 years respectively. In patients younger than 5 years (n = 30), 5 to 10 years (n = 52), and older than 10 years (n = 31), 57%, 81%, and 94% experienced at least 1 year of seizure freedom, and 32%, 52%, and 84% experienced at least 2 years of seizure freedom, respectively. However, 58% (65 out of 113) relapsed at least once after more than 1 year of seizure freedom without trigger exposure (40%) or because of common triggers, including fever (43%) and antiseizure medication (ASM) reduction (29%). There was an 84% risk of seizure relapse after ASM reduction attempts. The likelihood of seizure freedom decreased with early age at seizure onset and developmental delay.
Interpretation:
Patients with PCDH19-CE exhibit increasing seizure freedom with age, but there is a risk of relapse. ASM reduction in children younger than 10 years old requires caution. Patients with early seizure onset and developmental delay have a reduced chance of seizure freedom.
What This Paper Adds:
The seizure freedom rate in PCDH19 clustering epilepsy gradually increases with age. The disease course is characterized by relapsing-remitting seizures. Antiseizure medication reduction requires caution for patients younger than 10 years of age. Patients with early seizure onset and developmental delay are less likely to achieve seizure freedom.
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