IEC 2025 | The heterogeneity of juvenile myoclonic epilepsy and individualizing treatment
Rani Sarkis, MD, Brigham and Women’s Hospital, Boston, MA, comments on the growing understanding of juvenile myoclonic epilepsy as a heterogeneous condition with distinct patient populations and brain changes. Dr Sarkis highlights the potential for neuroimaging and cognitive phenotyping to better tailor treatment to individual patients. This interview took place at the 36th International Epilepsy Congress (IEC) in Lisbon, Portugal.
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Transcript
So juvenile myoclonic epilepsy has been an umbrella term we use for one of the idiopathic generalized epilepsies, whereby someone comes in with specific seizure semiologies. It’s usually myoclonus, tonic-clonic seizures, and sometimes absences, and they have a specific age of onset, usually around adolescence. We’ve known for decades that these patients, in addition to their seizures, might have cognitive and psychiatric comorbidities...
So juvenile myoclonic epilepsy has been an umbrella term we use for one of the idiopathic generalized epilepsies, whereby someone comes in with specific seizure semiologies. It’s usually myoclonus, tonic-clonic seizures, and sometimes absences, and they have a specific age of onset, usually around adolescence. We’ve known for decades that these patients, in addition to their seizures, might have cognitive and psychiatric comorbidities. And nowadays, we’ve reached a point where we can actually start phenotyping better within juvenile myoclonic epilepsy. Are there different patient populations? Unfortunately, there have been some prospective studies looking at the MRIs of people with juvenile myoclonic epilepsy, specifically focused on the frontal lobes and the thalamus. And once you focus on these areas, you can actually see that there are differences within JME. So some patients may have more changes in the left hemisphere versus the right hemisphere. And those who had more changes in the left hemisphere had more cognitive symptoms. So we’re starting to move beyond just saying someone has juvenile myoclonic epilepsy to better understand their networks, their patterns of atrophy and brain changes, and trying to link that with behavioral and cognitive phenotypes. Practically, what that might mean is we’re hoping to reach a point where if someone with JME comes to clinic, we perform more neuroimaging and cognitive phenotyping and connect them with the right services. Maybe this is someone who needs more mental health services versus someone who needs more speech therapy or cognitive rehabilitation. Another area of interest in juvenile myoclonic epilepsy is the synaptic pruning hypothesis. And so one of the questions is, should something be done about the way the brain is developing and the way there is synaptic pruning? We know that sleep plays an essential role in that process. Could there be patients where targeting their sleep with specific interventions might benefit them long term? That’s an open question, but a very exciting question because that might actually improve outcomes.
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