Juvenile myoclonic epilepsy patients and their siblings have ‘distinct genetic profiles’

According to new research conducted by medical teams in Manchester, Liverpool and Edinburgh, distinct neuropsychological profiles exist in young people that are affected by juvenile myoclonic epilepsy (JME), and their siblings.

22 sibling pairs were studied as part of the research study, and one in each pair was a JME patient while the other did not have the condition.

The research compared an individual’s results to those of their sibling, and then compared overall findings with a control group of 44 individuals that had no connection to the disorder, under video-electroencephalography (EEG) conditions.

The control group had been selected to carefully match the age, gender and educational level of the first group.

Following various tests, JME patients demonstrated greater levels of low mood than those without the condition.

However, the unaffected siblings, meanwhile, also differed significantly from the control group on psychomotor speed and verbal fluency, and they were considered to exhibit traits associated with executive dysfunction.

(Also known as ‘executive function deficit’, the condition is associated with disrupting the regulation, control and management of some cognitive processes.)

The researchers said: “This study supports the existence of a distinct neuropsychological profile among patients with JME and their siblings, which is likely to be genetically determined.

“The similarity of neuropsychological profiles between JME patients and their siblings is independent of antiepileptic drug effects or subclinical EEG activity.

“The significant differences between the sibling and controls suggests that there is a neurocognitive endophenotype for JME.”

Full results from the study have been published in the medical journal Epilepsia.