Prospective evaluation of clinical characteristics, treatment efficacy, and seizure remission in adult-onset genetic generalized epilepsy.

objectiveThis prospective study aims to characterize the spectrum of epilepsy syndromes among adult patients newly diagnosed with genetic generalized epilepsy (GGE). Additionally, it aims to examine their clinical characteristics, evaluate their response to treatment, and assess the feasibility of treatment discontinuation across each syndrome.

methodsPatients identified for this study were recruited from a prospective multicenter study evaluating patients with new-onset unprovoked seizures enrolled between March 2010 and March 2020. Participants underwent a comprehensive evaluation including a 3-h sleep-deprived video-EEG recording and an epilepsy protocol brain MRI with repeat EEG at each follow-up. Included were patients 18 years and older and meeting criteria for GGE. Treatment responses, antiseizure medication (ASM) withdrawal success rates, and achievement of a two-year terminal seizure remission were assessed.

resultsA total of 67 patients with a mean age at seizure onset of 21.9 years were included, constituting 16% of the entire GGE cohort. The most frequently diagnosed electroclinical syndrome was GTCA in 34 patients (50.7%), followed by JME in 21 patients (31.3%) and GGE not otherwise specified (GGE-NOS) in 12 patients (17.9%). Most patients responded well to monotherapy with valproate and levetiracetam as the most frequently prescribed ASMs. ASM tapering was attempted in 28 patients and was more frequently successful in patients with GTCA and GGE-NOS (60%) compared with JME (12.5%). A two-year terminal seizure freedom for all seizure types was achieved in 85.3% of patients with GTCA, 83.3% of those with GGE-NOS, and 23.8% of those with JME. SIGNIFICANCE: This study provides comprehensive insights into the epidemiology, clinical features, and treatment outcomes of adult-onset GGE. It emphasizes the necessity of considering GGE in adults with new-onset seizures, highlighting the efficacy of ASM therapies and suggesting that certain electroclinical syndromes may not mandate lifelong treatment, underscoring the pivotal role of accurate diagnosis. PLAIN LANGUAGE SUMMARY: This study evaluated adults experiencing their first seizures who were diagnosed with a type of epilepsy called genetic generalized epilepsy (GGE). We found that this condition can begin in adulthood, and many patients have a family history of seizures. Most responded well to treatment, frequently with just one medication, and only a few continued to have seizures. In some, particularly those with generalized tonic-clonic seizures (whole-body convulsions), treatment could be safely stopped after several seizure-free years. These findings highlight the importance of accurate diagnosis and provide reassurance that good seizure control is achievable for most adults with GGE.