Several studies on patients with juvenile myoclonic epilepsy (JME) showed widespread white matter (WM) abnormalities in the brain. The aim of this study was to investigate potential structural abnormalities in JME patients (1) compared to healthy controls, (2) among JME subgroups with or without photoparoxysmal responses (PPR), and (3) in correlation with clinical variables. A selection of 31 patients with JME (12 PPR positive) and 27 age and gender matched healthy controls (HC) were studied at a tertiary epilepsy center.
View Article and Find Full Text PDFObjective: The increasing incidence of new-onset seizures with age is well known. Often, the etiology cannot be clarified. In the present study, patients with unprovoked late-onset seizures and without known neoplasm, who might have had paraneoplastic encephalitis, were investigated for a potentially underlying autoimmunity.
View Article and Find Full Text PDFObjective: This study aimed to determine the contribution of EFHC1 variants to the phenotypic variability of juvenile myoclonic epilepsy (JME) and to evaluate their diagnostic value regarding previously identified clinical long-term seizure outcome predictors in a consecutive cohort of patients with JME.
Methods: Thirty-eight probands and three family members affected with JME were studied at a tertiary epilepsy center with a review of their medical records and a subsequent face-to-face interview. All coding EFHC1 exons and adjacent exon/intron boundaries were directly sequenced.
Objective: The long-term social outcome in patients with juvenile myoclonic epilepsy (JME) is still controversial. The aim of this study was both to investigate the long-term social outcome in relation to clinical variables and to identify epilepsy-related factors that affect the quality of life (QoL) in JME patients with a follow-up of at least 20 years.
Methods: A retrospective selection of 33 of 90 patients (21 female) from a tertiary epilepsy center diagnosed with JME and followed for ≥20 years (mean 37.
Purpose: The long-term seizure outcome of juvenile myoclonic epilepsy (JME) is still controversial; the value of factors that are potentially predictive for seizure outcome remains unclear. The aim of this study was both to investigate the long-term seizure outcome in patients with JME after a follow-up of at least 25 years and to identify factors that are predictive for the seizure outcome.
Methods: Data from 31 patients (19 women) with JME were studied.