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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.Thirty-eight probands and three family members affected with JME were studied at a tertiary epilepsy center...
ObjectiveThe 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.
MethodsA retrospective selection of 33 of 90...
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