Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis

Epilepsia. 2000 Oct;41(10):1296-302. doi: 10.1111/j.1528-1157.2000.tb04608.x.


Purpose: To survey the characteristics of epilepsy in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) and determine the antiepileptic drug (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 therapy were studied. The side effects of the AEDs were also clarified.

Results: Fifty of the 60 patients had epilepsy. Patients' first epileptic seizure occurred at a mean age of 10.0 years (range 5-16), the most common type being generalized seizures. As the first AED tried, valproate (VPA) and lamotrigine (LTG) appeared equally effective, with 80% of the patients responding 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 therapy 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 due to adverse effects.

Conclusion: Epilepsy in JNCL can usually be successfully treated with the current AEDs. In Finnish patients with JNCL, treatment is based on LTG, or, secondarily, VPA. In combination therapy, CZP seems a valuable add-on AED.

Publication types

  • Clinical Trial
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Anticonvulsants / therapeutic use*
  • Child
  • Child, Preschool
  • Clonazepam / therapeutic use
  • Comorbidity
  • Drug Administration Schedule
  • Drug Therapy, Combination
  • Epilepsy / drug therapy*
  • Epilepsy / epidemiology
  • Female
  • Finland / epidemiology
  • Follow-Up Studies
  • Humans
  • Lamotrigine
  • Male
  • Neuronal Ceroid-Lipofuscinoses / complications*
  • Neuronal Ceroid-Lipofuscinoses / epidemiology
  • Phenobarbital / therapeutic use
  • Treatment Outcome
  • Triazines / therapeutic use
  • Valproic Acid / therapeutic use


  • Anticonvulsants
  • Triazines
  • Clonazepam
  • Valproic Acid
  • Lamotrigine
  • Phenobarbital