We read with interest the paper by Destina Yalcin et al. describing four patients with eyelid myoclonia associated with absences, myoclonic jerks and generalized tonic—clonic seizures (GTCS), and showing electroclinical features compatible with the diagnosis of either eyelid myoclonia with absences (EMA) and juvenile myoclonic epilepsy (JME). The authors suggest that EMA and JME are dynamic syn...

110 Methods 114 Results 119 Discussion 123 References 131 Figures and Tables 136

Mutations in the EFHC1 gene have been linked to juvenile myoclonic epilepsy. To understand EFHC1 function in vivo, we generated knockout Drosophila for the fly homolog Defhc1.1. We found that the neuromuscular junction synapse of Defhc1.1 mutants displays an increased number of satellite boutons resulting in increased spontaneous neurotransmitter release. Defhc1.1 binds to microtubules in vitro...

A patient suffering from juvenile myoclonic epilepsy experienced myoclonic jerks, fairly regularly, while playing chess. The myoclonus appeared particularly when he had to plan his strategy, to choose between two solutions or while raising the arm to move a chess figure. Video-EEG-polygraphy was performed, with back averaging of the myoclonus registered during a chess match and during neuropsyc...

In patients with idiopathic generalized epilepsy (IGE), visual inspection of routine MRI is normal. However, pathological studies have shown microdysgenesis in grey and white matter in a large percentage of autopsies from cases of IGE. Recently, widespread structural changes not evident on visual inspection of high resolution MRI have been shown using quantitative MRI in patients with apparentl...

Ion channels play a central role in the generation and control of neuronal excitability. Genetic defects in ion channels are associated with several forms of human idiopathic epilepsies. These defects range from nonsense and missense point mutations to insertion, truncation and splice site mutations producing altered, non-functional or negative-dominant channel subunits. To date, 12 mutated gen...

Aggravation of idiopathic generalized epilepsy (IGE) syndromes by inappropriate antiepileptic drugs (AEDs) is increasingly recognized as a serious and common problem. Precipitation of status epilepticus (SE) by inappropriate medication has rarely been reported. We retrospectively studied all adult patients with IGE taking at least one potentially aggravating AED, who developed video-EEG documen...

Ion channels play a central role in the generation and control of neuronal excitability. Genetic defects in ion channels are associated with several forms of human idiopathic epilepsies. These defects range from nonsense and missense point mutations to insertion, truncation and splice site mutations producing altered, non-functional or negative-dominant channel subunits. To date, 12 mutated gen...