Academic Journal
Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members: An epilepsy endophenotype
| Title: | Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members: An epilepsy endophenotype |
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| Authors: | Robin G. Morris, Michaelis Koutroumanidis, Mark P. Richardson, Fahmida A. Chowdhury, Lina Nashef, Robert D. C. Elwes |
| Source: | Epilepsia. 55:835-840 |
| Publisher Information: | Wiley, 2014. |
| Publication Year: | 2014 |
| Subject Terms: | Adult, Male, DISORDERS, Endophenotypes, 15Q13.3 MICRODELETIONS, Neuropsychological Tests, Executive Function, 03 medical and health sciences, WORKING-MEMORY, 0302 clinical medicine, Neuropsychology, Genetics, Humans, Attention, Family, JUVENILE MYOCLONIC EPILEPSY, 10. No inequality, Epilepsy, Brain, Electroencephalography, CLINICAL-APPLICATION, 3. Good health, Endophenotype, Memory, Short-Term, Case-Control Studies, SEIZURES, Epilepsy, Generalized, Female, Cognition Disorders, TRAITS |
| Description: | SummaryObjectiveIdiopathic generalized epilepsy (IGE) has a strong genetic component, and patients with IGE show deficits in a range of frontal lobe functions. Previous studies provide hints that unaffected siblings of people with IGE may share some of these cognitive deficits, suggesting that these deficits may be genetically determined endophenotypes. Establishment of a neurocognitive endophenotype of IGE would contribute to genetic studies and increase our understanding of the pathophysiology of IGE. To identify potential neurocognitive endophenotypes of IGE, this study aimed to measure neuropsychological performance in patients with IGE, their unaffected relatives, and healthy controls.MethodsThirty‐six patients with IGE, 38 first‐degree relatives, and 40 healthy controls were examined using a battery of neuropsychological tests sensitive to frontal lobe dysfunction (executive function, nonverbal reasoning, verbal generativity, response inhibition, attention, and working memory). Subject groups were compared using robust Bonferroni‐corrected statistics.ResultsPatients with IGE showed deficits in nonverbal reasoning, verbal generativity, attention, and working memory. Relatives exhibited a parallel profile of cognitive abilities, with significant deficits in these tasks. Patients tended to show greater impairment than relatives in these tasks.SignificanceThis study shows that measures of nonverbal reasoning, verbal generativity, sustained attention, and working memory are endophenotypes of IGE and offer the potential for aiding molecular genetic studies and elucidating the pathophysiology of IGE. Patients tended to demonstrate greater impairment in these tasks, possibly because of a greater genetic contribution and/or disease‐related factors.A PowerPoint slide summarizing this article is available for download in the Supporting Information section here. |
| Document Type: | Article |
| Language: | English |
| ISSN: | 1528-1167 0013-9580 |
| DOI: | 10.1111/epi.12604 |
| Access URL: | https://pubmed.ncbi.nlm.nih.gov/24702672 https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.12604 https://onlinelibrary.wiley.com/doi/10.1111/epi.12604 https://www.ncbi.nlm.nih.gov/pubmed/24702672 https://core.ac.uk/display/29938788 http://europepmc.org/abstract/MED/24702672 https://pubmed.ncbi.nlm.nih.gov/24702672/ |
| Rights: | CC BY |
| Accession Number: | edsair.doi.dedup.....bec5dabcdf49fdf805249c02a1a23aa9 |
| Database: | OpenAIRE |
| ISSN: | 15281167 00139580 |
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| DOI: | 10.1111/epi.12604 |