A new study has demonstrated how certain antiepileptic drugs (AEDs) can be effectively used to treat epilepsy caused by PCDH19 mutations.
This specific genetic defect is known to prompt the onset of epilepsy or symptoms similar to Dravet syndrome in young girls, as well as causing problems with mental development. These effects can be extremely hard to treat with medication, particularly during the early years of life.
As such, the study aimed to evaluate the effectiveness of antiepileptic therapy in patients with PCDH19 mutations by conducting a retrospective multicentre study of AED usage in 58 female patients with PCDH19 mutations and epilepsy aged between two and 27 years.
According to results published in the medical journal Seizure, the most effective drugs after three months were clobazam and bromide, which respectively helped 68 per cent and 67 per cent of patients achieve a seizure reduction of at least 50 per cent.
When defining long-term response as the proportion of responders after 12 months of treatment in relation to the number of patients treated for at least three months, bromide and clobazam again emerged as the most effective drugs, with long-term response rates of 50 per cent and 43 per cent respectively.
Overall, it was shown that 74 per cent of the patients became seizure-free for at least three months, with 47 per cent achieving seizure freedom for at least one year.
The researchers concluded: “Although epilepsy in PCDH19 mutations is often pharmacoresistant, three-quarters of the patients became seizure-free for at least for three 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.”
Posted by Anne Brown
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