Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis

Purpose: To survey the characteristics of epilepsy in patients with juvenil e neuronal ceroid lipofuscinosis (JNCL) and determine the antiepileptic dru g (AED) treatment most suitable for these patients. Methods: The study included 60 patients with JNCL; their mean age was 16.5 years (range 5-33). The age at onset of epilepsy, type of seizures, effect of the first AED on seizures, and the current seizure frequency and AED the rapy were studied. The side effects of the AEDs were also clarified. Results: Fifty of the 60 patients had epilepsy. Patients' first epileptic s eizure occurred at a mean age of 10.0 years (range 5-16), the most common t ype being generalized seizures. As the first AED tried, valproate (VPA) and lamotrigine (LTG) appeared equally effective, with 80% of the patients res ponding to these AEDs. During the study year, the median seizure frequency was four seizures a year (range 0-120), and 72% of the patients had good or satisfactory seizure control (0-6 seizures a year). In the different AED t herapy groups, the proportion of patients with good or satisfactory seizure control ranged from 25% to 100%. LTG in monotherapy or in combination with clonazepam (CZP) was superior to other AEDs or combinations, but VPA also seemed effective. Adverse effects leading to the discontinuation of an AED were observed in 25% of the patients, most frequently in patients receiving phenobarbital (PB). No patient receiving LTG had to discontinue the drug d ue to adverse effects. Conclusion: Epilepsy in JNCL can usually be successfully treated with the c urrent AEDs. In Finnish patients with JNCL, treatment is based on LTG, or, secondarily, VPA. In combination therapy, CZP seems a valuable add-on AED.