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Neuropediatrics 1994; 25(1): 20-25
DOI: 10.1055/s-2008-1071576
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Linkage Analysis of Idiopathic Generalised Epilepsy in Families of Probands with Juvenile Myoclonic Epilepsy and Marker Loci in the Region of EPM 1 on Chromosome 21 q: Unverricht-Lundborg Disease and JME are not Allelic Variants

M.  Rees1 , D.  Curtis2 , K.  Parker1 , A.  Sundqvist3 , D.  Baralle1 , I. N. Bespalova4,5 , M.  Burmeister4, 5, 6 , E.  Chung1 , R. M. Gardiner1 , W. P. Whitehouse1
  • 1Department of Paediatrics, University College London Medical School, The Rayne Institute, University Street, London, UK
  • 2Department of Psychiatry, St. Mary's Hospital Medical School, Praed Street, London, UK
  • 3Department of Neurology, Karolinska Institutet, Soder Hospital, Stockholm, Sweden
  • 4Mental Health Research Institute, University of Michigan, Ann Arbor, MI, USA
  • 5Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA
  • 6Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA
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Publication History

Publication Date:
15 May 2008 (online)

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Abstract

The locus for Unverricht-Lundborg disease, EPM 1, has recently been mapped to chromosome 21q22.3. A locus, EJM 1, predisposing to idiopathic generalised epilepsy in families of probands with juvenile myoclonic epilepsy has been localised to chromosome 6p by evidence of linkage to the HLA region. However, segregation analysis suggests a two-locus model for JME and evidence has been obtained for genetic heterogeneity within the JME/IGE phenotype. EPM 1 was therefore investigated as a candidate locus in the set of families segregating for IGE and JME which do not show linkage to markers on chromosome 6p. Linkage analysis was carried out in 25 families using three microsatellite DNA markers around the EPM 1 gene region using different models of inheritance. Multipoint linkage analysis provided definite exclusion for 20cM around PFKL, the closest linked marker to EPM 1, under three out of four models tested. These results strongly suggest that the EPM 1 gene is not linked to the phenotype expressed in these families, and therefore that Unverricht-Lundborg disease and juvenile myoclonic epilepsy are not allelic variants.

Key words

Epilepsy - Genetics - Neurogenetics - Chromosome21

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