Feb 7, 2000 - Jeffrey Cohen,5 Cynthia Harden,6 Harriet Kang,2 Sharon Hertz,7 Sibylle Wallace,8 Daniel Luciano,9. Karen Ballaban-Gil,2 and David A.
American Journal of Medical Genetics (Neuropsychiatric Genetics) 96:49–52 (2000)
No Evidence for a Major Susceptibility Locus for Juvenile Myoclonic Epilepsy on Chromosome 15q Martina Durner,1 Shlomo Shinnar,2 Stanley R. Resor,3 Solomon L. Moshe,2 David Rosenbaum,4 Jeffrey Cohen,5 Cynthia Harden,6 Harriet Kang,2 Sharon Hertz,7 Sibylle Wallace,8 Daniel Luciano,9 Karen Ballaban-Gil,2 and David A. Greenberg1,10* 1
Department of Psychiatry and Department of Biostatistics, Mount Sinai Medical Center, New York, New York Department of Neurology and Pediatrics, Comprehensive Epilepsy Management Center, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York 3 Columbia Presbyterian Medical Center, New York, New York 4 Department of Neurology, Mount Sinai Medical Center, New York, New York 5 Beth Israel Medical Center, New York, New York 6 New York Hospital, Cornell University, New York, New York 7 Sinai Hospital, Baltimore, Maryland 8 Division of Neuropediatrics, Mount Sinai Medical Center, New York, New York 9 Hospital for Joint Diseases, New York University, New York, New York 10 Department of Biostatistics, Mount Sinai Medical Center, New York, New York 2
Juvenile myoclonic epilepsy (JME) is a distinct epileptic syndrome with a complex mode of inheritance. Several studies found evidence for a locus involved in JME on chromosome 6 near the HLA region. Recently, Elmslie et al. [1997] reported evidence of linkage in JME to chromosome 15q14 assuming a recessive mode of inheritance with 50% penetrance and 65% linked families. The area on chromosome 15q14 encompasses the location of the gene for the ␣-7 subunit of the nicotinic acetylcholine receptor. This could fit the hypothesis that there are two interacting loci, one on chromosome 6 and on chromosome 15 or that there is genetic heterogeneity in JME. In an independent dataset of JME families, we tested for linkage to chromosome 15 but found little evidence for linkage. Moreover, families with more than one family member affected with JME provide a lodscore of 3.4 for the HLA-DR/DQ haplotype on chromosome 6. The lodscore for these same families on chromosome 15q14 is
