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Heritability of cognitive endophenotypes in temporal lobe epilepsy: A neuropsychological investigation.

Principal Investigator:

Dr. Teresa Burke, University College Dublin


€43,400 over 18 months. 50% of the funding has been made available by the HRB/ MRCG Joint Funding Scheme. Epilepsy Ireland will fund the other 50% through fundraising

About this Project

Temporal lobe epilepsy (TLE) is probably the single most common of the epilepsies and the most extensively studied. In many cases, TLE does not respond to anti-epilepsy medication and many people with TLE require surgical intervention to improve their symptoms.

TLE is associated with substantial cognitive, psychological, and behaviouraleffects and often has a significant impact on an individual's quality of life. Despite this, we still know little about the genetic aspects of the TLE, largely due to the complexity of the condition.

A new approach to the genetic study of complex diseases in general has involved studying not just those with the condition, but also their unaffected family members, with the aim of identifying subtle risk factors.

Given that non-affected siblings share on average 50% of their genes with the affected family member, it is believed that they may also carry some of the susceptibility genes of TLE. Subtle abnormalities may therefore be found in unaffected siblings, for example in EEG, brain structure, cognitive function or behaviour. By identifying subtle abnormalities in siblings, we can potentially increase knowledge about genetic causes.

Because cognitive problems are prevalent in TLE, even at onset of the condition, this might represent a potential marker of risk. This study will investigate aspects of cognitive function in three groups of participants: individuals with a diagnosis of TLE; unaffected siblings of people with TLE; and matched controls with no neurological condition.

If the researchers can identify subtle cognitive problems in non-affected siblings, we can explore this as an early marker of TLE, and/or as a risk factor for development of the condition. This may, in turn, increase the power to detect the genes involved.


Download the results of this study in the pdf below


Downloadable Resources