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Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members: An epilepsy endophenotype

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Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members : An epilepsy endophenotype. / Chowdhury, Fahmida A.; Elwes, Robert D. C.; Koutroumanidis, Michaelis; Morris, Robin G.; Nashef, Lina; Richardson, Mark P.

In: Epilepsia, Vol. 55, No. 6, 06.2014, p. 835-840.

Research output: Contribution to journalArticle

Harvard

Chowdhury, FA, Elwes, RDC, Koutroumanidis, M, Morris, RG, Nashef, L & Richardson, MP 2014, 'Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members: An epilepsy endophenotype', Epilepsia, vol. 55, no. 6, pp. 835-840. https://doi.org/10.1111/epi.12604

APA

Chowdhury, F. A., Elwes, R. D. C., Koutroumanidis, M., Morris, R. G., Nashef, L., & Richardson, M. P. (2014). Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members: An epilepsy endophenotype. Epilepsia, 55(6), 835-840. https://doi.org/10.1111/epi.12604

Vancouver

Chowdhury FA, Elwes RDC, Koutroumanidis M, Morris RG, Nashef L, Richardson MP. Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members: An epilepsy endophenotype. Epilepsia. 2014 Jun;55(6):835-840. https://doi.org/10.1111/epi.12604

Author

Chowdhury, Fahmida A. ; Elwes, Robert D. C. ; Koutroumanidis, Michaelis ; Morris, Robin G. ; Nashef, Lina ; Richardson, Mark P. / Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members : An epilepsy endophenotype. In: Epilepsia. 2014 ; Vol. 55, No. 6. pp. 835-840.

Bibtex Download

@article{d6669732d4a345dc955052c86dd177d2,
title = "Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members: An epilepsy endophenotype",
abstract = "Objective  Idiopathic 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.  Methods  Thirty-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.  Results  Patients 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.  Significance  This 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.",
keywords = "Epilepsy, Genetics, Neuropsychology, Endophenotype, JUVENILE MYOCLONIC EPILEPSY, 15Q13.3 MICRODELETIONS, CLINICAL-APPLICATION, WORKING-MEMORY, DISORDERS, SEIZURES, TRAITS",
author = "Chowdhury, {Fahmida A.} and Elwes, {Robert D. C.} and Michaelis Koutroumanidis and Morris, {Robin G.} and Lina Nashef and Richardson, {Mark P.}",
year = "2014",
month = "6",
doi = "10.1111/epi.12604",
language = "English",
volume = "55",
pages = "835--840",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Wiley-Blackwell",
number = "6",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members

T2 - An epilepsy endophenotype

AU - Chowdhury, Fahmida A.

AU - Elwes, Robert D. C.

AU - Koutroumanidis, Michaelis

AU - Morris, Robin G.

AU - Nashef, Lina

AU - Richardson, Mark P.

PY - 2014/6

Y1 - 2014/6

N2 - Objective  Idiopathic 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.  Methods  Thirty-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.  Results  Patients 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.  Significance  This 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.

AB - Objective  Idiopathic 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.  Methods  Thirty-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.  Results  Patients 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.  Significance  This 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.

KW - Epilepsy

KW - Genetics

KW - Neuropsychology

KW - Endophenotype

KW - JUVENILE MYOCLONIC EPILEPSY

KW - 15Q13.3 MICRODELETIONS

KW - CLINICAL-APPLICATION

KW - WORKING-MEMORY

KW - DISORDERS

KW - SEIZURES

KW - TRAITS

U2 - 10.1111/epi.12604

DO - 10.1111/epi.12604

M3 - Article

VL - 55

SP - 835

EP - 840

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - 6

ER -

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