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From the G.H. Sergievsky Center (Drs. Winawer and Ottman), Departments of Neurology (Dr. Winawer) and Statistics (Dr. Rabinowitz), Department of Epidemiology, Mailman School of Public Health (Dr. Ottman), Columbia University, New York, NY; Epilepsy Research Centre and Department of Medicine (Drs. Marini, Scheffer, and Berkovic and B.E. Grinton), University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia; Department of Neurology, Royal Children’s Hospital and Monash Medical Centre (Dr. Scheffer), Melbourne, Victoria, Australia; and Epidemiology of Brain Disorders Research Department (Dr. Ottman), New York State Psychiatric Institute, New York, NY.
Address correspondence and reprint requests to Dr. Melodie Winawer, G.H. Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16, New York, NY 10032; e-mail: mw211{at}columbia.edu
Objective: To examine the genetic relationships among epilepsies with different seizure types—myoclonic, absence, and generalized tonic-clonic—within the idiopathic generalized epilepsies (IGEs).
Background: Careful phenotype definition in the epilepsies may allow division into groups that share susceptibility genes. Examination of seizure type, a phenotypic characteristic less complex than IGE syndrome, may help to define more homogeneous subgroups.
Methods: Using the approach that found evidence of distinct genetic effects on myoclonic vs absence seizures in families from the Epilepsy Family Study of Columbia University, the authors examined an independent sample of families from Australia and Israel. They also examined the familial clustering of generalized tonic-clonic seizures (GTCs) within the IGEs in two combined data sets. Families were defined as concordant if all affected members had the same type of seizure or IGE syndrome, as appropriate for the analysis performed.
Results: The proportion of families concordant for myoclonic vs absence seizures was greater than expected by chance in the Australian families. In addition, GTCs clustered in families with IGEs to a degree greater than expected by chance.
Conclusions: These results provide additional evidence for distinct genetic effects on myoclonic vs absence seizures in an independent set of families and suggest that there is a genetic influence on the occurrence of generalized tonic-clonic seizures within the idiopathic generalized epilepsies.
Commentary, see page 503
This work was supported by NIH grants R01 NS43472, R01 NS20656, R01 NS36319, K23 NS02211, NIH/NIGMS R01 GM055978, The National and Medical Research Council of Australia, and Bionomics Ltd.
Disclosure: The authors report no conflicts of interest.
Received December 29, 2004. Accepted in final form May 13, 2005.
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Neurology 2005 65: 503.
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