Juvenile Myoclonic Epilepsy Adventure: A Retrospective Study.

Abstract

Background: Juvenile Myoclonic Epilepsy (JME) is one of the most common idiopathic generalized epilepsies, typically emerging during adolescence. Despite its characteristic clinical and EEG features, diagnosis may sometimes be delayed.

Objectives: The aim of this study is to determine the frequency of juvenile myoclonic epilepsy (JME) among generalized epilepsies in children and the issues that should not be overlooked in its clinical course.

Materials and methods: This retrospective cross-sectional study was conducted between 2017 and 2019 at Necmettin Erbakan University Meram Faculty of Medicine, Department of Pediatric Neurology, Electroencephalography (EEG) Unit. A total of 300 patients with generalized epilepsy were studied. A total of 3600 EEG recordings were evaluated in detail by the same pediatric neurologist.

Results: JME was detected in 8% of the patients; 80% of the patients were female, 20% were male, median age was 15 years (6-17 years), 44% of the patients had a family history of seizures, and 68% had parental consanguinity. Late diagnosis was observed in 4% of JME patients. The most common myoclonic seizures in both groups consisted of eyelid twitching, continuous hand tremor, and accidental dropping of an object in the hand. The mean time from first seizure to correct diagnosis was 2 years (1-6 years).

Conclusions: This study demonstrates that in patients with undiagnosed generalized epilepsy in childhood, seizure characteristics should be assessed through a thorough review of their medical history and careful monitoring during clinical follow-up to accurately determine the true incidence of JME.