We have located links that may give you full text access.
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy.
Epilepsy Research 2008 November
INTRODUCTION: A crucial issue in the genetic analysis of idiopathic generalized epilepsy (IGE) is deciding on the phenotypes that are likely to give the greatest power to detect predisposing variants. A complex inheritance pattern and unclear nature of the genotype-phenotype correlation makes this task difficult. In the absence of much definitive genetic information to clarify this correlation, we inferred the putative effects of predisposing genes by studying the clustering of various phenotypic features, both clinical and electrophysiological, within families.
METHODS: We examined the distribution of clinical features among relatives of a proband in 70 French-Canadian families with a minimum of two affected individuals with a clear diagnosis of IGE and then, using concordance analysis, identified the relative genetic influences on IGE syndrome, seizure type, age-at-onset, and EEG features.
RESULTS: The mean number of affected individuals with IGE per family was three. One-third of relatives had the same syndrome as the proband. 16-22.5% of relatives of a proband with one of the absence syndromes had juvenile myoclonic epilepsy (JME). Conversely, 27% of relatives of probands with JME had an absence syndrome. 15% of relatives displayed the exact constellation of seizure types as the proband. Concordance analysis demonstrated greater clustering within families of IGE syndrome, seizure type, and age-at-onset than would be expected by chance. Significant concordance was not evident for EEG features.
DISCUSSION: There was a large degree of clinical heterogeneity present within families. However we found evidence for clustering of a number of clinical features. Further refinement of the phenotypes used in genetic studies of complex IGE is necessary for progress to be made.
METHODS: We examined the distribution of clinical features among relatives of a proband in 70 French-Canadian families with a minimum of two affected individuals with a clear diagnosis of IGE and then, using concordance analysis, identified the relative genetic influences on IGE syndrome, seizure type, age-at-onset, and EEG features.
RESULTS: The mean number of affected individuals with IGE per family was three. One-third of relatives had the same syndrome as the proband. 16-22.5% of relatives of a proband with one of the absence syndromes had juvenile myoclonic epilepsy (JME). Conversely, 27% of relatives of probands with JME had an absence syndrome. 15% of relatives displayed the exact constellation of seizure types as the proband. Concordance analysis demonstrated greater clustering within families of IGE syndrome, seizure type, and age-at-onset than would be expected by chance. Significant concordance was not evident for EEG features.
DISCUSSION: There was a large degree of clinical heterogeneity present within families. However we found evidence for clustering of a number of clinical features. Further refinement of the phenotypes used in genetic studies of complex IGE is necessary for progress to be made.
Full text links
Related Resources
Trending Papers
Challenges in Septic Shock: From New Hemodynamics to Blood Purification Therapies.Journal of Personalized Medicine 2024 Februrary 4
Molecular Targets of Novel Therapeutics for Diabetic Kidney Disease: A New Era of Nephroprotection.International Journal of Molecular Sciences 2024 April 4
The 'Ten Commandments' for the 2023 European Society of Cardiology guidelines for the management of endocarditis.European Heart Journal 2024 April 18
A Guide to the Use of Vasopressors and Inotropes for Patients in Shock.Journal of Intensive Care Medicine 2024 April 14
Diagnosis and Management of Cardiac Sarcoidosis: A Scientific Statement From the American Heart Association.Circulation 2024 April 19
Essential thrombocythaemia: A contemporary approach with new drugs on the horizon.British Journal of Haematology 2024 April 9
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app