Heritable. Many epilepsy syndromes have signature EEG traits, and these traits are thought to have a strong genetic component. The endophenotype concept suggests that using these epilepsy-related traits in genetic studies will facilitate gene discovery, a concept that has failed us so far in epilepsy research, unfortunately. Now, in a recent publication in Brain, we were able to demonstrate that variants in CHD2 predispose to photosensitivity, an abnormal cortical response to flickering light. Finally, after several decades of persisting difficulties, there is some progress in the field of EEG genetics. Continue reading
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Eyelid myoclonia with absences meets GEFS+
Running in the family. Eyelid myoclonia with absences (EMA) is a rare generalized epilepsy syndrome characterized by brief episodes of myoclonic jerks that are often accompanied by an upward deviation of the eyeballs and an extension of the head. The EEG shows generalized spike-wave discharges during these episodes, and most patients are highly photosensitive. Therefore, it would be natural to think of EMA as related to other classical generalized epilepsies including Childhood Absence Epilepsy or Juvenile Myoclonic Epilepsy. Now, a recent paper in Epilepsia shows that the families of patients with EMA tell a slightly different story. Continue reading
