ABSTRACT

In this article we aimed to evaluate the clinical, electroencephalographic and socio-demographic features in patients with juvenile myoclonic epilepsy (JME) and investigate the reasons for the delay in diagnosis.

We evaluated 37 patients with JME. Epilepsy onset, seizure type, antiepileptic drugs, electroencephalographic and radiologic findings were determined.

Twenty-seven female (72.9%), and 10 (27.1%) male patients were included. Mean age of patients was 22.8 (9-62), the onset of seizures ranged from 7 to 18 years of age. Fourteen patient (37.8%) had consanguinuous parents. Two patients had only myoclonic seizures, 8 patients had both myoclonic and absence seizures, 10 patients had myoclonic and generalized tonic clonic seizures and 17 patients had all 3 seizure types. Valproic acid monotheraphy was the most commonly used anti-epileptic drug. The mean duration between the first seizure and the diagnosis of JME was 2.5 years. Four patients were initially admitted to psychiatric unit. Carbamazepine was the initial drug of choice in 7 patients. None of the patients admitted to the hospital because of their absence or myoclonic jerks.

A reason in the delay of diagnosis of JME in our study seems, as the inattentiveness of the patients, or the parents, concerning the myoclonias. Inadequate questioning due to either the inexperience of the physician or to linguistic difficulties for sufficient communication may be other possible causes.

Keywords: Delayed diagnosis, juvenile myoclonic epilepsy, myoclonus