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ABSTRACT: Background
In 1978, Charlotte Dravet first described a form of epilepsy termed Dravet syndrome (DS). It is a form of genetic epilepsy with early-onset, intractable epilepsy episodes, and neurodevelopmental delay. In children, DS can lead to refractory seizures that are resistant to standard therapy. Recently, perampanel (PER) was approved as an antiepileptic drug for patients as young as 4 years old.Methods
The medical records were retrospectively reviewed and patients with DS who used PER were included in this study. The diagnosis was established using whole-exome sequencing, and the collected data included the patients' demographic characteristics, seizure pattern, PER dosage, laboratory and imaging findings.Results
This study included 18 pediatric patients with a
SUBMITTER: Muthaffar OY
PROVIDER: S-EPMC11071018 | biostudies-literature | 2024 Apr
REPOSITORIES: biostudies-literature