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Effectiveness of antiepileptic therapy in patients with PCDH19 mutations
Jan Lotte1, Thomas Bast2, Peter Borusiak3
1Neuropädiatrie, Schön Klinik Vogtareuth, Germany.
Insights
Bromide and clobazam are effective treatments for PCDH19 epilepsy, with many patients achieving seizure freedom. However, spontaneous remission may influence long-term treatment effectiveness assessments.
Area of Science:
- Neuroscience
- Genetics
- Pharmacology
Background:
- PCDH19 mutations are linked to epilepsy and intellectual disability, particularly in females, presenting as EFMR or Dravet-like syndromes.
- Epilepsy associated with PCDH19 mutations is often pharmacoresistant, especially during early childhood.
Purpose of the Study:
- To evaluate the effectiveness of various antiepileptic therapies in patients with PCDH19 mutations.
Main Methods:
- A retrospective multicenter study included 58 female patients with PCDH19 mutations and epilepsy.
- Patient ages ranged from 2 to 27 years, with a mean age of 10.6 years.
Main Results:
- After 3 months, clobazam (68% responder rate) and bromide (67% responder rate) were most effective, defined as ≥50% seizure reduction.
- Long-term response (12 months) showed bromide (50%) and clobazam (43%) remained effective.
- Seventy-four percent of patients achieved seizure freedom for at least 3 months, and 47% for at least one year.
Conclusions:
- Bromide and clobazam demonstrated the highest efficacy in treating epilepsy in patients with PCDH19 mutations.
- Despite pharmacoresistance, a significant proportion of patients experienced prolonged seizure freedom.
- Age-dependent spontaneous seizure remission complicates the assessment of drug effectiveness.
Purpose:
PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be highly pharmacoresistant. The aim of our study was to evaluate the effectiveness of antiepileptic therapy in patients with PCDH19 mutations.
Methods:
We report a retrospective multicenter study of antiepileptic therapy in 58 female patients with PCDH19 mutations and epilepsy aged 2-27 years (mean age 10.6 years).
Results:
The most effective drugs after 3 months were clobazam and bromide, with a responder rate of 68% and 67%, respectively, where response was defined as seizure reduction of at least 50%. Defining long-term response as the proportion of responders after 12 months of treatment with a given drug in relation to the number of patients treated for at least 3 months, the most effective drugs after 12 months were again bromide and clobazam, with a long-term response of 50% and 43%, respectively. Seventy-four percent of the patients became seizure-free for at least 3 months, 47% for at least one year.
Significance:
The most effective drugs in patients with PCDH19 mutations were bromide and clobazam. Although epilepsy in PCDH19 mutations is often pharmacoresistant, three quarters of the patients became seizure-free for at least for 3 months and half of them for at least one year. However, assessing the effectiveness of the drugs is difficult because a possible age-dependent spontaneous seizure remission must be considered.
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