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Genetic influences on myoclonic and absence seizures

From the G.H. Sergievsky Center (Drs. Winawer, Hauser, and Ottman) and the Departments of Neurology (Drs. Winawer, Pedley, and Hauser), Statistics (Dr. Rabinowitz), and Epidemiology (Drs. Hauser and Ottman), Columbia University, New York, NY; and Epidemiology of Brain Disorders Research Department (Dr. Ottman), New York State Psychiatric Institute, New York, NY.

Address correspondence and reprint requests to Dr. Ruth Ottman, G.H. Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16, New York, NY 10032; e-mail: ro6{at}columbia.edu

Objective: To examine the relationship between genotype and phenotype in idiopathic generalized epilepsies (IGEs) using a novel approach that focuses on seizure type rather than syndrome.

Methods: The authors evaluated whether the genetic effects on myoclonic seizures differ from the genetic effects on absence seizures. For this purpose, they studied 34 families containing 2 or more members with IGEs and assessed whether the number of families concordant for seizure type exceeded that expected by chance. The authors performed a similar analysis to examine the genetic contributions to juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), and childhood absence epilepsy (CAE).

Results: The observed number of families concordant for seizure type (myoclonic, absence, or both) was greater than expected (20 vs 7.51; p < 0.0001). The observed number of families concordant for syndrome was greater than expected when JME was compared with absence epilepsies (JAE+CAE) (17 vs 11.9; p < 0.012) but not when JAE was compared with CAE (8 vs 6.82; p = 0.516).

Conclusions: These results provide evidence for distinct genetic effects on absence and myoclonic seizures, suggesting that examining the two seizure types separately would be useful in linkage studies of idiopathic generalized epilepsies. The approach presented here can also be used to discover other clinical features that could direct division of epilepsies into groups likely to share susceptibility genes.

Received February 13, 2003. Accepted in final form July 18, 2003.

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				August 23 Highlight and Commentary: The profusion of genotypes and phenotypes in "idiopathic" generalized epilepsies Neurology, August 23, 2005; 65(4): 503 - 503. [Full Text] [PDF]

				M. R. Winawer, C. Marini, B. E. Grinton, D. Rabinowitz, S. F. Berkovic, I. E. Scheffer, and R. Ottman Familial clustering of seizure types within the idiopathic generalized epilepsies Neurology, August 23, 2005; 65(4): 523 - 528. [Abstract] [Full Text] [PDF]